XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

If cutting and pasting from another document, please be sure to list EITHER one gene symbol per line OR enter a comma-separated list.


OR

SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

You may also use this search to review average exome sequencing coverage by entering the gene symbol below.

SELECTED GENES FOR YOUR SLICE

What do you want to do?

Place an e-order of this Slice on a specific patient through the GeneDx Portal  
Obtain a Slice ID to order testing with a printed requisition form  
Only email the gene list to myself and/or others at this time  


 
Phenotypes
Bruising susceptibility

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCC616p13.1193.19%gene with protein product603234ARA, PXEAbnormality of the cerebral vasculature; Abnormality of the mouth; Abnormality of the sternum; Accelerated atherosclerosis; Angina pectoris; Angioid streaks of the fundus; Arterial stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Bruising susceptibility; Calcification of falx cerebri; Cerebral hemorrhage; Civatte bodies; Congestive heart failure; Coronary artery calcification; Excessive wrinkled skin; Gastrointestinal hemorrhage; High palate; High, narrow palate; Hypermelanotic macule; Intermittent claudication; Kyphosis; Macular degeneration; Medial calcification of large arteries; Medial calcification of medium-sized arteries; Mitral stenosis; Mitral valve prolapse; Myopia; Premature occlusive vascular stenosis; Reduced visual acuity; Renal insufficiency; Restrictive cardiomyopathy; Retinal hemorrhage; Retinopathy; Scoliosis; Skin rash; Striae distensae; Stroke; Thickened nuchal skin fold; Visual impairment; Yellow papule
ADAMTS25q35.3100%gene with protein product604539Abnormality of primary molar morphology; Abnormality of subcutaneous fat tissue; Aphasia; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Blepharochalasis; Blue sclerae; Bruising susceptibility; Coxa valga; Coxa vara; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Downslanted palpebral fissures; Dysphasia; Echolalia; Epicanthus; Esophagitis; Everted lower lip vermilion; Excessive wrinkled skin; Femoral hernia; Fragile skin; Frontal open bite; Gastroesophageal reflux; Gingival bleeding; Gingival hyperkeratosis; Gingival overgrowth; Hiatus hernia; Hip dislocation; Hip dysplasia; Hirsutism; Hyperextensible skin; Hypodontia; Inguinal hernia; Joint hyperflexibility; Joint laxity; Joint stiffness; Micrognathia; Micromelia; Motor delay; Muscular hypotonia; Mutism; Myopia; Osteomalacia; Osteopenia; Osteoporosis; Premature birth; Premature rupture of membranes; Prolonged bleeding time; Recurrent mandibular subluxations; Redundant skin; Retrognathia; Rickets; Scarring; Scoliosis; Severe short stature; Short phalanx of finger; Short stature; Short toe; Soft, doughy skin; Spontaneous neonatal pneumothorax; Thick vermilion border; Thin skin; Umbilical hernia; Wide anterior fontanel
AIP11q13.2100%gene with protein product605555Abdominal obesity; Abnormal fear/anxiety-related behavior; Abnormal toenail morphology; Abnormality of hair density; Abnormality of the fingernails; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Alkalosis; Amenorrhea; Anterior hypopituitarism; Anxiety; Arthralgia; Autosomal dominant inheritance; Biconcave vertebral bodies; Broad foot; Broad forehead; Broad jaw; Bruising susceptibility; Cardiomyopathy; Cerebral palsy; Coarse facial features; Cortical diaphyseal thickening of the upper limbs; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Deep palmar crease; Deep plantar creases; Depressivity; Diabetes mellitus; Dysmenorrhea; Dyspareunia; Easy fatigability; Edema; Facial erythema; Fatigue; Female hypogonadism; Frontal bossing; Full cheeks; Galactorrhea; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Gynecomastia; Headache; Hirsutism; Hoarse voice; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Impotence; Increased circulating ACTH level; Increased serum insulin-like growth factor 1; Joint swelling; Kyphosis; Large hands; Left ventricular hypertrophy; Long face; Long penis; Macrodactyly; Macroglossia; Macrotia; Male hypogonadism; Mandibular prognathia; Menstrual irregularities; Migraine; Mood changes; Nephrolithiasis; Oligomenorrhea; Osteoarthritis; Osteopenia; Osteoporosis; Pallor; Palpebral edema; Paresthesia; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary hypothyroidism; Pituitary prolactin cell adenoma; Poor wound healing; Progressive visual loss; Prolactin excess; Prolactinoma; Psychotic mentation; Purpura; Secondary growth hormone deficiency; Skeletal muscle atrophy; Sleep apnea; Somatic mutation; Spinal canal stenosis; Striae distensae; Symmetric great toe depigmentation; Synophrys; Tall stature; Tapered finger; Thick lower lip vermilion; Thin skin; Vertebral compression fractures; Vomiting; Wide nose; Widely spaced teethAutoimmune Disorders ; Obesity
ANKRD2610p12.198.92%gene with protein productThe published ANKRD26 promoter/regulatory variants would not be detected by XomeDxSlice.610855THC2Autosomal dominant inheritance; Bruising susceptibility; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes
ARMC516p11.2100%gene with protein product615549Autosomal dominant inheritance; Bruising susceptibility; Depressivity; Diabetes mellitus; Failure to thrive; Fatigue; Generalized hirsutism; Hyperglycemia; Hypertension; Macronodular adrenal hyperplasia; Menometrorrhagia; Muscle weakness; Nephrolithiasis; Osteoporosis; Round face; Somatic mutation; Thin skin; Truncal obesityObesity
ATP7AXq21.199.98%gene with protein product300011MNKAbnormal carotid artery morphology; Abnormal peripheral nervous system morphology; Abnormality of the face; Abnormality of the metaphysis; Abnormality of the palate; Abnormality of the sense of smell; Abnormality of the wrist; Aplasia/Hypoplasia of the abdominal wall musculature; Arterial stenosis; Atypical scarring of skin; Behavioral abnormality; Bladder carcinoma; Bladder diverticulum; Brachycephaly; Brachydactyly; Broad clavicles; Broad ribs; Bruising susceptibility; Capitate-hamate fusion; Carotid artery tortuosity; Cerebral calcification; Chronic diarrhea; Coarse hair; Convex nasal ridge; Coxa valga; Cutis laxa; Death in childhood; Delayed cranial suture closure; Developmental regression; Dilatation; Distal amyotrophy; Distal muscle weakness; Dry skin; Dysphagia; EMG: neuropathic changes; Esophagitis; Exostoses; Fatigue; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Gastroparesis; Genu valgum; Global developmental delay; Hepatitis; Hiatus hernia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperextensible skin; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Hypothermia; Inguinal hernia; Intellectual disability; Intracranial hemorrhage; Intrauterine growth retardation; Jaundice; Joint hyperflexibility; Joint laxity; Juvenile onset; Keloids; Kyphosis; Large fontanelles; Limited elbow extension; Limited knee extension; Long face; Long neck; Long philtrum; Malabsorption; Mask-like facies; Metaphyseal spurs; Metaphyseal widening; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Narrow chest; Narrow face; Nausea and vomiting; Orthostatic hypotension; Osteomalacia; Osteopenia; Osteoporosis; Pectus carinatum; Pectus excavatum; Pelvic bone exostoses; Persistent open anterior fontanelle; Pes cavus; Pes planus; Platyspondyly; Poor suck; Prolonged neonatal jaundice; Prominent occiput; Redundant skin; Rickets; Seizures; Short clavicles; Short humerus; Short palm; Short stature; Slow progression; Soft skin; Sparse hair; Spasticity; Specific learning disability; Spinal muscular atrophy; Synostosis of joints; Thickened skin; Umbilical hernia; Unsteady gait; Ureteral obstruction; Venous insufficiency; Woolly hair; Wormian bones; X-linked recessive inheritance
ATP7AXq21.199.98%gene with protein product300011MNKAbnormal carotid artery morphology; Abnormal peripheral nervous system morphology; Abnormality of the face; Abnormality of the metaphysis; Abnormality of the palate; Abnormality of the sense of smell; Abnormality of the wrist; Aplasia/Hypoplasia of the abdominal wall musculature; Arterial stenosis; Atypical scarring of skin; Behavioral abnormality; Bladder carcinoma; Bladder diverticulum; Brachycephaly; Brachydactyly; Broad clavicles; Broad ribs; Bruising susceptibility; Capitate-hamate fusion; Carotid artery tortuosity; Cerebral calcification; Chronic diarrhea; Coarse hair; Convex nasal ridge; Coxa valga; Cutis laxa; Death in childhood; Delayed cranial suture closure; Developmental regression; Dilatation; Distal amyotrophy; Distal muscle weakness; Dry skin; Dysphagia; EMG: neuropathic changes; Esophagitis; Exostoses; Fatigue; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Gastroparesis; Genu valgum; Global developmental delay; Hepatitis; Hiatus hernia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperextensible skin; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Hypothermia; Inguinal hernia; Intellectual disability; Intracranial hemorrhage; Intrauterine growth retardation; Jaundice; Joint hyperflexibility; Joint laxity; Juvenile onset; Keloids; Kyphosis; Large fontanelles; Limited elbow extension; Limited knee extension; Long face; Long neck; Long philtrum; Malabsorption; Mask-like facies; Metaphyseal spurs; Metaphyseal widening; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Narrow chest; Narrow face; Nausea and vomiting; Orthostatic hypotension; Osteomalacia; Osteopenia; Osteoporosis; Pectus carinatum; Pectus excavatum; Pelvic bone exostoses; Persistent open anterior fontanelle; Pes cavus; Pes planus; Platyspondyly; Poor suck; Prolonged neonatal jaundice; Prominent occiput; Redundant skin; Rickets; Seizures; Short clavicles; Short humerus; Short palm; Short stature; Slow progression; Soft skin; Sparse hair; Spasticity; Specific learning disability; Spinal muscular atrophy; Synostosis of joints; Thickened skin; Umbilical hernia; Unsteady gait; Ureteral obstruction; Venous insufficiency; Woolly hair; Wormian bones; X-linked recessive inheritance
ATP7B13q14.3100%gene with protein product606882WNDAbnormality of the hand; Abnormality of the menstrual cycle; Acute hepatic failure; Acute hepatitis; Aggressive behavior; Aminoaciduria; Anemia; Arthralgia; Arthritis; Atypical or prolonged hepatitis; Autosomal recessive inheritance; Back pain; Bone pain; Bruising susceptibility; Chondrocalcinosis; Cirrhosis; Clumsiness; Coma; Dementia; Depressivity; Difficulty walking; Drooling; Dysarthria; Dysphagia; Dystonia; Elevated hepatic transaminases; Esophageal varix; Failure to thrive; Glycosuria; Hemolytic anemia; Hepatic failure; Hepatic steatosis; Hepatomegaly; High nonceruloplasmin-bound serum copper; Hypercalciuria; Hyperphosphaturia; Hypersexuality; Hypoparathyroidism; Increased body weight; Intellectual disability; Jaundice; Joint hypermobility; Joint swelling; Kayser-Fleischer ring; Mixed demyelinating and axonal polyneuropathy; Nephrolithiasis; Osteoarthritis; Osteomalacia; Osteoporosis; Pathologic fracture; Personality changes; Poor motor coordination; Proteinuria; Proximal muscle weakness in lower limbs; Pruritus; Renal tubular dysfunction; Splenomegaly; Thrombocytopenia; Tremor; Weight loss
ATRXXq21.199.92%gene with protein product300032, 300504RAD54, JMS, MRX52Abnormal hemoglobin; Abnormality of blood and blood-forming tissues; Abnormality of fontanelles; Abnormality of metabolism/homeostasis; Absent frontal sinuses; Ambiguous genitalia; Anorexia; Anteverted nares; Autism; Brachydactyly; Bruising susceptibility; Cerebral atrophy; Clinodactyly; Coarse facial features; Constipation; Coxa valga; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Drooling; Dysphasia; Dyspnea; Epicanthus; Episodic abdominal pain; Everted lower lip vermilion; Exotropia; Fatigue; Flat face; Gastroesophageal reflux; Genu valgum; Global developmental delay; Hemivertebrae; Hemoglobin H; High palate; Hydronephrosis; Hyperactivity; Hyperreflexia; Hypertelorism; Hypochromic microcytic anemia; Hypogonadism; Hypoplasia of penis; Hypoplastic philtrum; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intermittent diarrhea; Iron deficiency anemia; Kyphoscoliosis; Low-set ears; Lower limb hypertonia; Macroglossia; Malar flattening; Male pseudohermaphroditism; Microcephaly; Microcytic anemia; Micrognathia; Micropenis; Microtia; Midface retrusion; Muscular hypotonia; Myelodysplasia; Narrow forehead; Nausea and vomiting; Neutropenia; Open mouth; Optic atrophy; Paroxysmal bursts of laughter; Perimembranous ventricular septal defect; Pes planus; Phenotypic variability; Poor appetite; Posteriorly rotated ears; Postnatal growth retardation; Profound global developmental delay; Protruding tongue; Ptosis; Radial deviation of finger; Reduced alpha/beta synthesis ratio; Renal agenesis; Renal hypoplasia; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short nose; Short stature; Short upper lip; Slender finger; Spasticity; Talipes calcaneovalgus; Talipes equinovarus; Tapered finger; Telecanthus; Tented upper lip vermilion; Thick lower lip vermilion; Thin upper lip vermilion; Thrombocytopenia; Triangular nasal tip; U-Shaped upper lip vermilion; Umbilical hernia; Upslanted palpebral fissure; Vesicoureteral reflux; Vomiting; Weight loss; Wide mouth; Wide nasal bridge; Widely-spaced maxillary central incisors; X-linked dominant inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
BLOC1S319q13.32100%gene with protein product609762Albinism; Autosomal recessive inheritance; Bruising susceptibility; Ocular albinism; Visual impairmentAlbinism
C1R12p13.3144.8%gene with protein product613785Agenesis of permanent teeth; Alveolar bone loss around teeth; Arthralgia; Arthritis; Atrophic scars; Atrophy of alveolar ridges; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Bruising susceptibility; Complement deficiency; Discoid lupus rash; Gingival bleeding; Gingival overgrowth; Gingival recession; Hoarse voice; Hyperextensible skin; Hypermelanotic macule; Inguinal hernia; Joint hyperflexibility; Joint laxity; Microdontia; Nephritis; Palmoplantar cutis laxa; Periodontitis; Poor wound healing; Premature loss of teeth; Recurrent bronchitis; Short stature; Soft skin; Thin skinAlbinism
C1S12p13.3199.99%gene with protein product120580Abnormality of complement system; Agenesis of permanent teeth; Atrophic scars; Atrophy of alveolar ridges; Autosomal dominant inheritance; Bruising susceptibility; Fragile skin; Gingival overgrowth; Hashimoto thyroiditis; Hepatitis; Hyperextensible skin; Hypermelanotic macule; Joint hyperflexibility; Joint hypermobility; Microdontia; Neoplasm; Periodontitis; Short stature; Systemic lupus erythematosusAlbinism ; Autoimmune Disorders
CDH2310q22.1100%gene with protein product605516DFNB12, USH1DAbnormal cochlea morphology; Abnormal electroretinogram; Abnormality of hair density; Abnormality of the eye; Abnormality of the menstrual cycle; Acne; Adrenal hyperplasia; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Amenorrhea; Anxiety; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Bruising susceptibility; Cataract; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Depressivity; Diabetes mellitus; Dyspareunia; Easy fatigability; Enlarged pituitary gland; Failure to thrive; Fatigue; Female hypogonadism; Galactorrhea; Generalized hirsutism; Global developmental delay; Goiter; Gynecomastia; Headache; Hearing impairment; Hemianopia; High hypermetropia; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Immunodeficiency; Impotence; Increased thyroid-stimulating hormone level; Infertility; Intellectual disability; Iris hypopigmentation; Lipodystrophy; Male hypogonadism; Menorrhagia; Metrorrhagia; Nephrolithiasis; Nyctalopia; Osteopenia; Osteoporosis; Pallor; Palpitations; Pituitary adenoma; Pituitary hypothyroidism; Prelingual sensorineural hearing impairment; Progressive visual loss; Recurrent fractures; Rod-cone dystrophy; Round face; Schizophrenia; Scotoma; Secondary growth hormone deficiency; Sensorineural hearing impairment; Thin skin; Thyroid crisis; Tremor; Truncal obesity; Vestibular dysfunction; Vestibular hypofunction; Visual loss; Vomiting; Weight loss
CHST1415q15.1100%gene with protein product608429D4ST1Abnormal anterior chamber morphology; Abnormality of the duodenum; Adducted thumb; Arachnodactyly; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal recessive inheritance; Blue sclerae; Brachycephaly; Broad forehead; Bruising susceptibility; Cleft palate; Constipation; Cryptorchidism; Delayed cranial suture closure; Diastasis recti; Distal arthrogryposis; Downslanted palpebral fissures; Facial asymmetry; Flat forehead; Fragile skin; Generalized hypotonia; Generalized joint laxity; Glaucoma; Global developmental delay; Hearing impairment; Hiatus hernia; High palate; Hydronephrosis; Hyperextensible skin; Hypertelorism; Intestinal malrotation; Joint dislocation; Joint laxity; Large fontanelles; Long philtrum; Microcornea; Microretrognathia; Motor delay; Myopia; Narrow mouth; Nephrotic syndrome; Pectus excavatum; Pneumothorax; Posteriorly rotated ears; Protruding ear; Recurrent skin infections; Retinal detachment; Scarring; Scoliosis; Strabismus; Talipes equinovarus; Telecanthus; Thin upper lip vermilion; Umbilical hernia; Ventriculomegaly
COL1A117q21.33100%gene with protein product120150Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Behavioral abnormality; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowel diverticulosis; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calvarial hyperostosis; Cellulitis; Cigarette-paper scars; Congenital bilateral hip dislocation; Congenital diaphragmatic hernia; Congestive heart failure; Convex nasal ridge; Cortical irregularity; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Ectopia lentis; Epicanthus; Erythema; Femoral bowing; Femoral bowing present at birth, straightening with time; Femoral hernia; Fever; Fibrosarcoma; Fragile skin; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Growth abnormality; Hallux valgus; Hearing impairment; Hyperesthesia; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Increased susceptibility to fractures; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Kyphosis; Large fontanelles; Lop ear; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral valve prolapse; Molluscoid pseudotumors; Multiple prenatal fractures; Muscle weakness; Myopia; Narrow maxilla; Neonatal short-limb short stature; Neoplasm of the skin; Nonimmune hydrops fetalis; Osteoarthritis; Osteopenia; Otosclerosis; Pectus carinatum; Pectus excavatum; Periosteal thickening of long tubular bones; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Skin ulcer; Slender long bone; Small for gestational age; Soft skin; Subcutaneous nodule; Subcutaneous spheroids; Thickened skin; Thin skin; Tibial bowing; Triangular face; Umbilical hernia; Varicose veins; Wide anterior fontanel; Wormian bones
COL1A117q21.33100%gene with protein product120150Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Behavioral abnormality; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowel diverticulosis; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calvarial hyperostosis; Cellulitis; Cigarette-paper scars; Congenital bilateral hip dislocation; Congenital diaphragmatic hernia; Congestive heart failure; Convex nasal ridge; Cortical irregularity; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Ectopia lentis; Epicanthus; Erythema; Femoral bowing; Femoral bowing present at birth, straightening with time; Femoral hernia; Fever; Fibrosarcoma; Fragile skin; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Growth abnormality; Hallux valgus; Hearing impairment; Hyperesthesia; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Increased susceptibility to fractures; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Kyphosis; Large fontanelles; Lop ear; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral valve prolapse; Molluscoid pseudotumors; Multiple prenatal fractures; Muscle weakness; Myopia; Narrow maxilla; Neonatal short-limb short stature; Neoplasm of the skin; Nonimmune hydrops fetalis; Osteoarthritis; Osteopenia; Otosclerosis; Pectus carinatum; Pectus excavatum; Periosteal thickening of long tubular bones; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Skin ulcer; Slender long bone; Small for gestational age; Soft skin; Subcutaneous nodule; Subcutaneous spheroids; Thickened skin; Thin skin; Tibial bowing; Triangular face; Umbilical hernia; Varicose veins; Wide anterior fontanel; Wormian bones
COL1A117q21.33100%gene with protein product120150Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Behavioral abnormality; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowel diverticulosis; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calvarial hyperostosis; Cellulitis; Cigarette-paper scars; Congenital bilateral hip dislocation; Congenital diaphragmatic hernia; Congestive heart failure; Convex nasal ridge; Cortical irregularity; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Ectopia lentis; Epicanthus; Erythema; Femoral bowing; Femoral bowing present at birth, straightening with time; Femoral hernia; Fever; Fibrosarcoma; Fragile skin; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Growth abnormality; Hallux valgus; Hearing impairment; Hyperesthesia; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Increased susceptibility to fractures; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Kyphosis; Large fontanelles; Lop ear; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral valve prolapse; Molluscoid pseudotumors; Multiple prenatal fractures; Muscle weakness; Myopia; Narrow maxilla; Neonatal short-limb short stature; Neoplasm of the skin; Nonimmune hydrops fetalis; Osteoarthritis; Osteopenia; Otosclerosis; Pectus carinatum; Pectus excavatum; Periosteal thickening of long tubular bones; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Skin ulcer; Slender long bone; Small for gestational age; Soft skin; Subcutaneous nodule; Subcutaneous spheroids; Thickened skin; Thin skin; Tibial bowing; Triangular face; Umbilical hernia; Varicose veins; Wide anterior fontanel; Wormian bones
COL1A117q21.33100%gene with protein product120150Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Behavioral abnormality; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowel diverticulosis; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calvarial hyperostosis; Cellulitis; Cigarette-paper scars; Congenital bilateral hip dislocation; Congenital diaphragmatic hernia; Congestive heart failure; Convex nasal ridge; Cortical irregularity; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Ectopia lentis; Epicanthus; Erythema; Femoral bowing; Femoral bowing present at birth, straightening with time; Femoral hernia; Fever; Fibrosarcoma; Fragile skin; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Growth abnormality; Hallux valgus; Hearing impairment; Hyperesthesia; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Increased susceptibility to fractures; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Kyphosis; Large fontanelles; Lop ear; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral valve prolapse; Molluscoid pseudotumors; Multiple prenatal fractures; Muscle weakness; Myopia; Narrow maxilla; Neonatal short-limb short stature; Neoplasm of the skin; Nonimmune hydrops fetalis; Osteoarthritis; Osteopenia; Otosclerosis; Pectus carinatum; Pectus excavatum; Periosteal thickening of long tubular bones; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Skin ulcer; Slender long bone; Small for gestational age; Soft skin; Subcutaneous nodule; Subcutaneous spheroids; Thickened skin; Thin skin; Tibial bowing; Triangular face; Umbilical hernia; Varicose veins; Wide anterior fontanel; Wormian bones
COL1A117q21.33100%gene with protein product120150Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Behavioral abnormality; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowel diverticulosis; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calvarial hyperostosis; Cellulitis; Cigarette-paper scars; Congenital bilateral hip dislocation; Congenital diaphragmatic hernia; Congestive heart failure; Convex nasal ridge; Cortical irregularity; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Ectopia lentis; Epicanthus; Erythema; Femoral bowing; Femoral bowing present at birth, straightening with time; Femoral hernia; Fever; Fibrosarcoma; Fragile skin; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Growth abnormality; Hallux valgus; Hearing impairment; Hyperesthesia; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Increased susceptibility to fractures; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Kyphosis; Large fontanelles; Lop ear; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral valve prolapse; Molluscoid pseudotumors; Multiple prenatal fractures; Muscle weakness; Myopia; Narrow maxilla; Neonatal short-limb short stature; Neoplasm of the skin; Nonimmune hydrops fetalis; Osteoarthritis; Osteopenia; Otosclerosis; Pectus carinatum; Pectus excavatum; Periosteal thickening of long tubular bones; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Skin ulcer; Slender long bone; Small for gestational age; Soft skin; Subcutaneous nodule; Subcutaneous spheroids; Thickened skin; Thin skin; Tibial bowing; Triangular face; Umbilical hernia; Varicose veins; Wide anterior fontanel; Wormian bones
COL1A27q21.399.62%gene with protein product120160OI4Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic regurgitation; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calcaneovalgus deformity; Congenital bilateral hip dislocation; Congestive heart failure; Convex nasal ridge; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Excessive wrinkled skin; Femoral bowing present at birth, straightening with time; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Hearing impairment; Hernia; Hyperextensible skin; Increased susceptibility to fractures; Inguinal hernia; Joint hyperflexibility; Joint laxity; Kyphosis; Large fontanelles; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral regurgitation; Mitral valve prolapse; Multiple prenatal fractures; Muscle weakness; Neonatal short-limb short stature; Nonimmune hydrops fetalis; Osteopenia; Otosclerosis; Pectus excavatum; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Slender long bone; Small for gestational age; Soft skin; Subcutaneous hemorrhage; Thin skin; Tibial bowing; Triangular face; Wide anterior fontanel; Wormian bones
COL1A27q21.399.62%gene with protein product120160OI4Abnormality of pelvic girdle bone morphology; Abnormality of the nervous system; Abnormality of the thorax; Absent ossification of calvaria; Aortic regurgitation; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Basilar impression; Beaded ribs; Biconcave flattened vertebrae; Biconcave vertebral bodies; Blue sclerae; Bowing of limbs due to multiple fractures; Breech presentation; Broad long bones; Bruising susceptibility; Calcaneovalgus deformity; Congenital bilateral hip dislocation; Congestive heart failure; Convex nasal ridge; Crumpled long bones; Decreased calvarial ossification; Delayed gross motor development; Dentinogenesis imperfecta; Disproportionate short-limb short stature; Excessive wrinkled skin; Femoral bowing present at birth, straightening with time; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Hearing impairment; Hernia; Hyperextensible skin; Increased susceptibility to fractures; Inguinal hernia; Joint hyperflexibility; Joint laxity; Kyphosis; Large fontanelles; Malar flattening; Micrognathia; Midface retrusion; Mild short stature; Mitral regurgitation; Mitral valve prolapse; Multiple prenatal fractures; Muscle weakness; Neonatal short-limb short stature; Nonimmune hydrops fetalis; Osteopenia; Otosclerosis; Pectus excavatum; Pes planus; Platybasia; Platyspondyly; Poor wound healing; Premature birth; Premature osteoarthritis; Protrusio acetabuli; Pulmonary arterial hypertension; Pulmonary insufficiency; Recurrent fractures; Reduced bone mineral density; Respiratory insufficiency; Scoliosis; Severe generalized osteoporosis; Short stature; Slender long bone; Small for gestational age; Soft skin; Subcutaneous hemorrhage; Thin skin; Tibial bowing; Triangular face; Wide anterior fontanel; Wormian bones
COL3A12q32.2100%gene with protein product120180EDS4AAbnormal circle of Willis morphology; Abnormal oral frenulum morphology; Abnormality of brainstem morphology; Abnormality of the eyelashes; Abnormality of the urinary system; Absent earlobe; Alopecia of scalp; Aortic dissection; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Arterial dissection; Arteriovenous fistulas of celiac and mesenteric vessels; Atherosclerosis; Autosomal dominant inheritance; Bladder diverticulum; Bruising susceptibility; Carious teeth; Cerebral berry aneurysm; Cigarette-paper scars; Cognitive impairment; Convex nasal ridge; Cryptorchidism; Dermal translucency; Dilatation of the cerebral artery; Epicanthus; Excessive wrinkled skin; Fine hair; Flat face; Foot acroosteolysis; Fragile skin; Gastrointestinal infarctions; Glaucoma; Global developmental delay; Hemiparesis; Hemoptysis; Hyperextensible skin; Hypermobility of distal interphalangeal joints; Hypertelorism; Hypertension; Hypokalemia; Inguinal hernia; Intellectual disability; Internal hemorrhage; Irregular hyperpigmentation; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Keratoconus; Lipoatrophy; Macule; Melanocytic nevus; Micrognathia; Mitral valve prolapse; Molluscoid pseudotumors; Osteoarthritis; Osteolytic defects of the phalanges of the hand; Pectus excavatum; Periodontitis; Peripheral arteriovenous fistula; Pneumothorax; Premature birth; Premature delivery because of cervical insufficiency or membrane fragility; Premature loss of teeth; Proptosis; Protruding ear; Respiratory insufficiency; Scoliosis; Seizures; Short foot; Short stature; Small hand; Soft skin; Spontaneous pneumothorax; Sprengel anomaly; Striae distensae; Talipes equinovarus; Telangiectasia of the skin; Telecanthus; Thin skin; Thin vermilion border; Transient ischemic attack; Uterine prolapse; Varicose veins; Visual field defect
COL3A12q32.2100%gene with protein product120180EDS4AAbnormal circle of Willis morphology; Abnormal oral frenulum morphology; Abnormality of brainstem morphology; Abnormality of the eyelashes; Abnormality of the urinary system; Absent earlobe; Alopecia of scalp; Aortic dissection; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Arterial dissection; Arteriovenous fistulas of celiac and mesenteric vessels; Atherosclerosis; Autosomal dominant inheritance; Bladder diverticulum; Bruising susceptibility; Carious teeth; Cerebral berry aneurysm; Cigarette-paper scars; Cognitive impairment; Convex nasal ridge; Cryptorchidism; Dermal translucency; Dilatation of the cerebral artery; Epicanthus; Excessive wrinkled skin; Fine hair; Flat face; Foot acroosteolysis; Fragile skin; Gastrointestinal infarctions; Glaucoma; Global developmental delay; Hemiparesis; Hemoptysis; Hyperextensible skin; Hypermobility of distal interphalangeal joints; Hypertelorism; Hypertension; Hypokalemia; Inguinal hernia; Intellectual disability; Internal hemorrhage; Irregular hyperpigmentation; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Keratoconus; Lipoatrophy; Macule; Melanocytic nevus; Micrognathia; Mitral valve prolapse; Molluscoid pseudotumors; Osteoarthritis; Osteolytic defects of the phalanges of the hand; Pectus excavatum; Periodontitis; Peripheral arteriovenous fistula; Pneumothorax; Premature birth; Premature delivery because of cervical insufficiency or membrane fragility; Premature loss of teeth; Proptosis; Protruding ear; Respiratory insufficiency; Scoliosis; Seizures; Short foot; Short stature; Small hand; Soft skin; Spontaneous pneumothorax; Sprengel anomaly; Striae distensae; Talipes equinovarus; Telangiectasia of the skin; Telecanthus; Thin skin; Thin vermilion border; Transient ischemic attack; Uterine prolapse; Varicose veins; Visual field defect
COL5A19q34.399.98%gene with protein product120215Abnormal oral frenulum morphology; Abnormality of the eyelashes; Aortic aneurysm; Aortic dissection; Aortic root aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Arterial dissection; Arteriovenous fistulas of celiac and mesenteric vessels; Atrophic scars; Autosomal dominant inheritance; Bladder diverticulum; Blue sclerae; Bowel diverticulosis; Bruising susceptibility; Carious teeth; Cigarette-paper scars; Cognitive impairment; Congenital diaphragmatic hernia; Cryptorchidism; Dermal translucency; Ectopia lentis; Epicanthus; Femoral hernia; Flat face; Fragile skin; Gastroesophageal reflux; Gastrointestinal infarctions; Genu recurvatum; Glaucoma; Global developmental delay; Hallux valgus; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Hypertelorism; Hypokalemia; Infantile muscular hypotonia; Inguinal hernia; Internal hemorrhage; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Lop ear; Macule; Melanocytic nevus; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Narrow maxilla; Osteoarthritis; Pectus carinatum; Pectus excavatum; Peripheral arteriovenous fistula; Pes planus; Pneumothorax; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Proptosis; Protruding ear; Respiratory insufficiency; Scoliosis; Short stature; Soft skin; Sprengel anomaly; Subcutaneous spheroids; Talipes equinovarus; Telangiectasia of the skin; Telecanthus; Thin skin; Thin vermilion border; Umbilical hernia; Varicose veins
COL5A19q34.399.98%gene with protein product120215Abnormal oral frenulum morphology; Abnormality of the eyelashes; Aortic aneurysm; Aortic dissection; Aortic root aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Arterial dissection; Arteriovenous fistulas of celiac and mesenteric vessels; Atrophic scars; Autosomal dominant inheritance; Bladder diverticulum; Blue sclerae; Bowel diverticulosis; Bruising susceptibility; Carious teeth; Cigarette-paper scars; Cognitive impairment; Congenital diaphragmatic hernia; Cryptorchidism; Dermal translucency; Ectopia lentis; Epicanthus; Femoral hernia; Flat face; Fragile skin; Gastroesophageal reflux; Gastrointestinal infarctions; Genu recurvatum; Glaucoma; Global developmental delay; Hallux valgus; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Hypertelorism; Hypokalemia; Infantile muscular hypotonia; Inguinal hernia; Internal hemorrhage; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Lop ear; Macule; Melanocytic nevus; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Narrow maxilla; Osteoarthritis; Pectus carinatum; Pectus excavatum; Peripheral arteriovenous fistula; Pes planus; Pneumothorax; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Proptosis; Protruding ear; Respiratory insufficiency; Scoliosis; Short stature; Soft skin; Sprengel anomaly; Subcutaneous spheroids; Talipes equinovarus; Telangiectasia of the skin; Telecanthus; Thin skin; Thin vermilion border; Umbilical hernia; Varicose veins
COL5A19q34.399.98%gene with protein product120215Abnormal oral frenulum morphology; Abnormality of the eyelashes; Aortic aneurysm; Aortic dissection; Aortic root aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Arterial dissection; Arteriovenous fistulas of celiac and mesenteric vessels; Atrophic scars; Autosomal dominant inheritance; Bladder diverticulum; Blue sclerae; Bowel diverticulosis; Bruising susceptibility; Carious teeth; Cigarette-paper scars; Cognitive impairment; Congenital diaphragmatic hernia; Cryptorchidism; Dermal translucency; Ectopia lentis; Epicanthus; Femoral hernia; Flat face; Fragile skin; Gastroesophageal reflux; Gastrointestinal infarctions; Genu recurvatum; Glaucoma; Global developmental delay; Hallux valgus; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Hypertelorism; Hypokalemia; Infantile muscular hypotonia; Inguinal hernia; Internal hemorrhage; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Lop ear; Macule; Melanocytic nevus; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Narrow maxilla; Osteoarthritis; Pectus carinatum; Pectus excavatum; Peripheral arteriovenous fistula; Pes planus; Pneumothorax; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Proptosis; Protruding ear; Respiratory insufficiency; Scoliosis; Short stature; Soft skin; Sprengel anomaly; Subcutaneous spheroids; Talipes equinovarus; Telangiectasia of the skin; Telecanthus; Thin skin; Thin vermilion border; Umbilical hernia; Varicose veins
COL5A19q34.399.98%gene with protein product120215Abnormal oral frenulum morphology; Abnormality of the eyelashes; Aortic aneurysm; Aortic dissection; Aortic root aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Arterial dissection; Arteriovenous fistulas of celiac and mesenteric vessels; Atrophic scars; Autosomal dominant inheritance; Bladder diverticulum; Blue sclerae; Bowel diverticulosis; Bruising susceptibility; Carious teeth; Cigarette-paper scars; Cognitive impairment; Congenital diaphragmatic hernia; Cryptorchidism; Dermal translucency; Ectopia lentis; Epicanthus; Femoral hernia; Flat face; Fragile skin; Gastroesophageal reflux; Gastrointestinal infarctions; Genu recurvatum; Glaucoma; Global developmental delay; Hallux valgus; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Hypertelorism; Hypokalemia; Infantile muscular hypotonia; Inguinal hernia; Internal hemorrhage; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Lop ear; Macule; Melanocytic nevus; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Narrow maxilla; Osteoarthritis; Pectus carinatum; Pectus excavatum; Peripheral arteriovenous fistula; Pes planus; Pneumothorax; Poor wound healing; Premature birth; Premature birth following premature rupture of fetal membranes; Proptosis; Protruding ear; Respiratory insufficiency; Scoliosis; Short stature; Soft skin; Sprengel anomaly; Subcutaneous spheroids; Talipes equinovarus; Telangiectasia of the skin; Telecanthus; Thin skin; Thin vermilion border; Umbilical hernia; Varicose veins
COL5A22q32.299.87%gene with protein product120190Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Blue sclerae; Bowel diverticulosis; Bruising susceptibility; Cigarette-paper scars; Congenital diaphragmatic hernia; Ectopia lentis; Epicanthus; Femoral hernia; Fragile skin; Gastroesophageal reflux; Genu recurvatum; Hallux valgus; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Lop ear; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Narrow maxilla; Osteoarthritis; Pectus carinatum; Pectus excavatum; Pes planus; Poor wound healing; Premature birth following premature rupture of fetal membranes; Scoliosis; Short stature; Soft skin; Subcutaneous spheroids; Thin skin; Umbilical hernia; Varicose veins
COL5A22q32.299.87%gene with protein product120190Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Blue sclerae; Bowel diverticulosis; Bruising susceptibility; Cigarette-paper scars; Congenital diaphragmatic hernia; Ectopia lentis; Epicanthus; Femoral hernia; Fragile skin; Gastroesophageal reflux; Genu recurvatum; Hallux valgus; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Lop ear; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Narrow maxilla; Osteoarthritis; Pectus carinatum; Pectus excavatum; Pes planus; Poor wound healing; Premature birth following premature rupture of fetal membranes; Scoliosis; Short stature; Soft skin; Subcutaneous spheroids; Thin skin; Umbilical hernia; Varicose veins
COL5A22q32.299.87%gene with protein product120190Aortic aneurysm; Aortic root aneurysm; Atrophic scars; Autosomal dominant inheritance; Blue sclerae; Bowel diverticulosis; Bruising susceptibility; Cigarette-paper scars; Congenital diaphragmatic hernia; Ectopia lentis; Epicanthus; Femoral hernia; Fragile skin; Gastroesophageal reflux; Genu recurvatum; Hallux valgus; Hyperextensibility at elbow; Hyperextensibility of the finger joints; Hyperextensibility of the knee; Hyperextensible skin; Infantile muscular hypotonia; Inguinal hernia; Irregularly spaced teeth; Joint dislocation; Joint hyperflexibility; Lop ear; Mitral valve prolapse; Molluscoid pseudotumors; Myopia; Narrow maxilla; Osteoarthritis; Pectus carinatum; Pectus excavatum; Pes planus; Poor wound healing; Premature birth following premature rupture of fetal membranes; Scoliosis; Short stature; Soft skin; Subcutaneous spheroids; Thin skin; Umbilical hernia; Varicose veins
DTNBP16p22.3100%gene with protein product607145Albinism; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Impaired platelet aggregation; Nystagmus; Ocular albinism; Reduced visual acuity; Visual impairmentAlbinism
ENPP16q23.299.79%gene with protein product173335NPPS, M6S1, PDNP1Abnormal trabecular bone morphology; Abnormality of renal excretion; Abnormality of the cerebral vasculature; Abnormality of the sacroiliac joint; Angioid streaks of the fundus; Arterial stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Congestive heart failure; Coronary artery calcification; Coxa vara; Craniosynostosis; Delayed eruption of teeth; Distal femoral bowing; Elevated alkaline phosphatase of bone origin; Enlargement of the wrists; Enthesitis; Epidermal acanthosis; Excessive wrinkled skin; Generalized arterial calcification; Genu varum; Hypergranulosis; Hyperkeratosis; Hyperphosphaturia; Hypertension; Hypophosphatemic rickets; Increased bone mineral density; Low serum calcitriol; Lower limb asymmetry; Malabsorption; Myocardial infarction; Myopia; Osteomalacia; Polyarticular arthritis; Pseudo-fractures; Renal hypophosphatemia; Renal phosphate wasting; Retinal hemorrhage; Retinopathy; Rickets of the lower limbs; Sclerotic vertebral endplates; Sensorineural hearing impairment; Short stature; Skeletal dysplasia; Skin rash; Spinal canal stenosis; Striae distensae; Thickened nuchal skin fold; Tibial bowing; Tooth abscessPalmoplantar keratoderma plus congenital ichthyosis
ETV612p13.2100%gene with protein product600618Autosomal dominant inheritance; Bruising susceptibility; Epistaxis; Petechiae; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes
F13A16p25.1100%gene with protein product134570F13AAutosomal recessive inheritance; Bruising susceptibility; Congenital onset; Epistaxis; Intracranial hemorrhage; Joint hemorrhage; Reduced factor XIII activity; Spontaneous hematomas
F13B1q31.399.88%gene with protein product134580Abnormal umbilical stump bleeding; Autosomal recessive inheritance; Bruising susceptibility; Congenital onset; Prolonged bleeding after surgery; Reduced factor XIII activityAutoimmune Disorders ; Common Variable Immune Deficiency ; Primary Immunodeficiency
F211p11.2100%gene with protein product176930Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Cerebral venous thrombosis; Childhood onset; Congenital onset; Deep venous thrombosis; Epistaxis; Gastrointestinal hemorrhage; Gingival bleeding; Joint hemorrhage; Menorrhagia; Prolonged bleeding time; Prolonged partial thromboplastin time; Prolonged prothrombin time; Pulmonary embolism; Recurrent thrombophlebitis; Reduced prothrombin activity; Thromboembolism; Variable expressivityAplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Common Variable Immune Deficiency ; Congenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Ectodermal Dysplasia ; Fanconi Anemia ; Heterotaxy ; Inflammatory Bowel Disease ; Nephrotic Syndrome ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
F51q24.299.91%gene with protein product612309Abdominal pain; Adult onset; Ascites; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Cirrhosis; Deep venous thrombosis; Elevated hepatic transaminases; Epistaxis; Esophageal varix; Fever; Hepatomegaly; Hypercoagulability; Menorrhagia; Portal hypertension; Preeclampsia; Prolonged bleeding time; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prolonged whole-blood clotting time; Reduced factor V activity; Resistance to activated protein C; SplenomegalyHeterotaxy
F713q34100%gene with protein product613878Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gastrointestinal hemorrhage; Gingival bleeding; Intracranial hemorrhage; Intramuscular hematoma; Joint hemorrhage; Menorrhagia; Prolonged bleeding after surgery; Prolonged prothrombin time; Reduced factor VII activity; Variable expressivityEctodermal Dysplasia ; Heterotaxy ; Obesity
F8Xq28100%gene with protein product300841F8CBruising susceptibility; Joint hemorrhage; Osteoarthritis; Persistent bleeding after trauma; Prolonged partial thromboplastin time; Reduced factor VIII activity; X-linked recessive inheritanceDisorders of Sex Development; Heterotaxy ; Obesity; VACTERL Association
FANCA16q24.3100%gene with protein product607139FACA, FANCHAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of skin pigmentation; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anemia; Anemic pallor; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bruising susceptibility; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Complete duplication of thumb phalanx; Cryptorchidism; Deficient excision of UV-induced pyrimidine dimers in DNA; Duplicated collecting system; Ectopic kidney; Esophageal atresia; Global developmental delay; Hearing impairment; Horseshoe kidney; Hypergonadotropic hypogonadism; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Microphthalmia; Neutropenia; Pancytopenia; Prolonged G2 phase of cell cycle; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Reticulocytopenia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Small for gestational age; Strabismus; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCC9q22.32100%gene with protein product613899FACCAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of skin pigmentation; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anemia; Anemic pallor; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bruising susceptibility; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Complete duplication of thumb phalanx; Cryptorchidism; Deficient excision of UV-induced pyrimidine dimers in DNA; Duplicated collecting system; Ectopic kidney; Esophageal atresia; Global developmental delay; Hearing impairment; Horseshoe kidney; Hypergonadotropic hypogonadism; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Microphthalmia; Neutropenia; Pancytopenia; Prolonged G2 phase of cell cycle; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Reticulocytopenia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Small for gestational age; Strabismus; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCD23p25.399.99%gene with protein product613984FACD, FANCDAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of skin pigmentation; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anemia; Anemic pallor; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bruising susceptibility; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Complete duplication of thumb phalanx; Cryptorchidism; Deficient excision of UV-induced pyrimidine dimers in DNA; Duplicated collecting system; Ectopic kidney; Esophageal atresia; Global developmental delay; Hearing impairment; Horseshoe kidney; Hypergonadotropic hypogonadism; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Microphthalmia; Neutropenia; Pancytopenia; Prolonged G2 phase of cell cycle; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Reticulocytopenia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Small for gestational age; Strabismus; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCE6p21.31100%gene with protein product613976FACEAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of skin pigmentation; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anemia; Anemic pallor; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bruising susceptibility; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Complete duplication of thumb phalanx; Cryptorchidism; Deficient excision of UV-induced pyrimidine dimers in DNA; Duplicated collecting system; Ectopic kidney; Esophageal atresia; Global developmental delay; Hearing impairment; Horseshoe kidney; Hypergonadotropic hypogonadism; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Microphthalmia; Neutropenia; Pancytopenia; Prolonged G2 phase of cell cycle; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Reticulocytopenia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Small for gestational age; Strabismus; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FBN115q21.1100%gene with protein product134797FBN, MFS1, WMSAbnormal aortic valve morphology; Abnormal cardiac ventricle morphology; Abnormal echocardiogram; Abnormal eyebrow morphology; Abnormality iris morphology; Abnormality of dental morphology; Abnormality of the sternum; Adducted thumb; Anteverted nares; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Aortic root aneurysm; Aortic valve stenosis; Arachnodactyly; Ascending aortic dissection; Ascending tubular aorta aneurysm; Autosomal dominant inheritance; Blindness; Blue sclerae; Brachycephaly; Brachydactyly; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanges of the hand; Broad ribs; Broad skull; Bruising susceptibility; Bulbous nose; Camptodactyly of finger; Cardiomegaly; Cataract; Chest pain; Cognitive impairment; Communicating hydrocephalus; Cone-shaped epiphysis; Congestive heart failure; Coronary artery atherosclerosis; Craniosynostosis; Crumpled ear; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Decreased muscle mass; Decreased nerve conduction velocity; Decreased testicular size; Deep philtrum; Deeply set eye; Delayed skeletal maturation; Dental crowding; Depressed nasal bridge; Descending aortic dissection; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dural ectasia; Ectopia lentis; Emphysema; Enlarged thorax; Exertional dyspnea; Feeding difficulties; Fifth metacarpal with ulnar notch; Flexion contracture; Frontal bossing; Full cheeks; Genu recurvatum; Glaucoma; Hammertoe; Heart murmur; Hepatomegaly; High forehead; High myopia; High palate; High, narrow palate; Hoarse voice; Hyperextensibility of the finger joints; Hypertelorism; Hypertension; Hypoplasia of the iris; Hypoplasia of the maxilla; Hyporeflexia; Hypoxemia; Incisional hernia; Increased arm span; Increased axial length of the globe; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Iridodonesis; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Kyphoscoliosis; Lack of skin elasticity; Left ventricular failure; Limitation of joint mobility; Lipoatrophy; Long eyelashes; Long face; Long philtrum; Long toe; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Mandibular prognathia; Medial rotation of the medial malleolus; Megalocornea; Micrognathia; Microspherophakia; Misalignment of teeth; Mitral annular calcification; Mitral regurgitation; Mitral stenosis; Mitral valve prolapse; Motor delay; Muscular hypotonia; Myopia; Narrow face; Narrow mouth; Narrow nose; Narrow palate; Neonatal respiratory distress; Oligohydramnios; Ovoid vertebral bodies; Paroxysmal dyspnea; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pes cavus; Pes planus; Pes valgus; Pneumothorax; Posteriorly rotated ears; Premature birth; Premature osteoarthritis; Prominent forehead; Prominent nasal bridge; Proportionate short stature; Proptosis; Protrusio acetabuli; Ptosis; Pulmonary arterial hypertension; Pulmonary artery dilatation; Pulmonic stenosis; Reduced subcutaneous adipose tissue; Respiratory insufficiency; Retinal detachment; Retrognathia; Round face; Scaphocephaly; Scoliosis; Severe short stature; Shallow anterior chamber; Shallow orbits; Short foot; Short long bone; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short stature; Short thumb; Small for gestational age; Small hand; Smooth philtrum; Spinal canal stenosis; Spondylolisthesis; Stiff skin; Strabismus; Striae distensae; Talipes calcaneovarus; Tall stature; Telecanthus; Thick lower lip vermilion; Thickened skin; Thin bony cortex; Thin upper lip vermilion; Toe walking; Tricuspid regurgitation; Tricuspid valve prolapse; Umbilical hernia; Ventricular septal defect; Wide nasal bridge
FKBP147p14.3100%gene with protein product614505Atrophic scars; Autosomal recessive inheritance; Bruising susceptibility; Easy fatigability; Elevated serum creatine phosphokinase; Follicular hyperkeratosis; Hernia; High-frequency sensorineural hearing impairment; Hyperextensible skin; Joint hypermobility; Kyphoscoliosis; Motor delay; Muscular hypotonia; Myopathy; Myopia; Osteopenia; Pes planus; Phenotypic variability; Poor head control; Sensorineural hearing impairment; Severe muscular hypotonia; Skeletal muscle atrophy; Soft skin
GATA1Xp11.23100%gene with protein product305371GF1Abnormal bleeding; Abnormal blistering of the skin; Abnormal hemoglobin; Abnormal lactate dehydrogenase activity; Abnormal megakaryocyte morphology; Abnormal platelet function; Abnormal urinary color; Abnormality of multiple cell lineages in the bone marrow; Abnormality of reticulocytes; Abnormality of the foot; Abnormality of the genital system; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the urinary system; Acanthocytosis; Acute megakaryocytic leukemia; Aganglionic megacolon; Alzheimer disease; Anal atresia; Anemia; Anemia of inadequate production; Anisocytosis; Arrhythmia; Atlantoaxial instability; Atypical scarring of skin; Brachycephaly; Broad palm; Bruising susceptibility; Brushfield spots; Cleft palate; Complete atrioventricular canal defect; Conductive hearing impairment; Congenital thrombocytopenia; Cryptorchidism; Cutaneous photosensitivity; Delayed puberty; Duodenal stenosis; Elliptocytosis; Epicanthus; Epistaxis; Fatigue; Flat face; Hemolytic anemia; Hypertrichosis; Hypochromic anemia; Hypoplastic iliac wing; Hypothyroidism; Immunodeficiency; Increased hemoglobin; Infantile onset; Intellectual disability; Joint laxity; Macrocytic anemia; Macroglossia; Macrothrombocytopenia; Malar flattening; Microtia; Migraine; Muscular hypotonia; Myeloproliferative disorder; Neutropenia; Osteopenia; Pallor; Persistent bleeding after trauma; Petechiae; Poikilocytosis; Prolonged bleeding time; Protruding tongue; Recurrent fractures; Recurrent skin infections; Reticulocytosis; Shallow acetabular fossae; Short middle phalanx of the 5th finger; Short palm; Short stature; Single transverse palmar crease; Splenomegaly; Sporadic; Thickened nuchal skin fold; Thrombocytopenia; Upslanted palpebral fissure; Variable expressivity; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
GATA1Xp11.23100%gene with protein product305371GF1Abnormal bleeding; Abnormal blistering of the skin; Abnormal hemoglobin; Abnormal lactate dehydrogenase activity; Abnormal megakaryocyte morphology; Abnormal platelet function; Abnormal urinary color; Abnormality of multiple cell lineages in the bone marrow; Abnormality of reticulocytes; Abnormality of the foot; Abnormality of the genital system; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the urinary system; Acanthocytosis; Acute megakaryocytic leukemia; Aganglionic megacolon; Alzheimer disease; Anal atresia; Anemia; Anemia of inadequate production; Anisocytosis; Arrhythmia; Atlantoaxial instability; Atypical scarring of skin; Brachycephaly; Broad palm; Bruising susceptibility; Brushfield spots; Cleft palate; Complete atrioventricular canal defect; Conductive hearing impairment; Congenital thrombocytopenia; Cryptorchidism; Cutaneous photosensitivity; Delayed puberty; Duodenal stenosis; Elliptocytosis; Epicanthus; Epistaxis; Fatigue; Flat face; Hemolytic anemia; Hypertrichosis; Hypochromic anemia; Hypoplastic iliac wing; Hypothyroidism; Immunodeficiency; Increased hemoglobin; Infantile onset; Intellectual disability; Joint laxity; Macrocytic anemia; Macroglossia; Macrothrombocytopenia; Malar flattening; Microtia; Migraine; Muscular hypotonia; Myeloproliferative disorder; Neutropenia; Osteopenia; Pallor; Persistent bleeding after trauma; Petechiae; Poikilocytosis; Prolonged bleeding time; Protruding tongue; Recurrent fractures; Recurrent skin infections; Reticulocytosis; Shallow acetabular fossae; Short middle phalanx of the 5th finger; Short palm; Short stature; Single transverse palmar crease; Splenomegaly; Sporadic; Thickened nuchal skin fold; Thrombocytopenia; Upslanted palpebral fissure; Variable expressivity; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
GATA23q21.3100%gene with protein productThe published variants deep within intron 4 of GATA2 would not be detected by XomeDxSlice137295Abnormal natural killer cell morphology; Abnormal neutrophil count; Abnormality of the optic nerve; Acute leukemia; Autosomal dominant inheritance; Bone marrow hypocellularity; Bruising susceptibility; Cellulitis; Chronic otitis media; Fatigue; Fever; Hepatomegaly; Hypercoagulability; Immunodeficiency; Intracranial hemorrhage; Lymphedema; Migraine; Monocytopenia; Myelodysplasia; Nausea and vomiting; Neurological speech impairment; Neutropenia; Pallor; Pancytopenia; Phenotypic variability; Prolonged bleeding time; Recurrent fungal infections; Recurrent mycobacterium avium complex infections; Recurrent respiratory infections; Recurrent viral infections; Respiratory failure; Sensorineural hearing impairment; Splenomegaly; Thrombocytopenia; Vertigo; Visual loss; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes
GBA1q2299.84%gene with protein productIncluded in this XomeDxSlice test, but please note that many disease alleles are not detectable by XomeDxSlice.606463GLUCAbdominal pain; Abnormal aortic arch morphology; Abnormal pattern of respiration; Adult onset; Akinesia; Anemia; Anorexia; Anteverted nares; Aortic valve calcification; Apathy; Apnea; Arthrogryposis multiplex congenita; Ascites; Aseptic necrosis; Ataxia; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Bulbar signs; Calcification of the aorta; Cardiomegaly; Cerebral atrophy; Congenital nonbullous ichthyosiform erythroderma; Cough; Death in infancy; Decreased beta-glucocerebrosidase protein and activity; Decreased body weight; Decreased fetal movement; Delayed puberty; Delayed skeletal maturation; Dementia; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dysphagia; Dyspnea; Dystonia; Ectropion; Encephalopathy; Epistaxis; Erlenmeyer flask deformity of the femurs; Esotropia; Everted lower lip vermilion; Everted upper lip vermilion; Failure to thrive; Fatigue; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Gait disturbance; Generalized myoclonic seizures; Gingival bleeding; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High palate; Horizontal nystagmus; Horizontal supranuclear gaze palsy; Hydrocephalus; Hydrops fetalis; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypersplenism; Hypertelorism; Hypertonia; Hypokinesia; Hypometric horizontal saccades; Increased antibody level in blood; Increased bone mineral density; Increased susceptibility to fractures; Interstitial pulmonary abnormality; Intracranial hemorrhage; Intrauterine growth retardation; Kyphosis; Low-set ears; Low-set, posteriorly rotated ears; Macular atrophy; Microcephaly; Micrognathia; Microtia; Mitral valve calcification; Motor delay; Multiple myeloma; Muscular hypotonia; Myoclonus; Narrow mouth; Neonatal death; Neurological speech impairment; Nonimmune hydrops fetalis; Oculomotor apraxia; Opacification of the corneal stroma; Open mouth; Ophthalmoplegia; Opisthotonus; Osteolysis; Osteopenia; Pancytopenia; Pathologic fracture; Pes cavus; Petechiae; Phenotypic variability; Polyhydramnios; Premature birth; Progressive neurologic deterioration; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Recurrent respiratory infections; Respiratory distress; Reticular hyperpigmentation; Retrognathia; Rigidity; Seizures; Short nose; Short stature; Slowed horizontal saccades; Spastic paraparesis; Spasticity; Splenomegaly; Stillbirth; Strabismus; Supranuclear ophthalmoplegia; Thoracic hypoplasia; Thrombocytopenia; Triangular face; Trismus; Vascular calcification; Ventriculomegaly; Vertebral compression fracturesPalmoplantar keratoderma plus congenital ichthyosis
GFI1B9q34.13100%gene with protein product604383Abnormal thrombocyte morphology; Abnormality of the menstrual cycle; Absence of alpha granules; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gastrointestinal hemorrhage; Infantile onset; Myelodysplasia; Myelofibrosis; Prolonged bleeding time; Reduced prothrombin consumption; Splenomegaly; Thrombocytopenia; Variable expressivity
GFI1B9q34.13100%gene with protein product604383Abnormal thrombocyte morphology; Abnormality of the menstrual cycle; Absence of alpha granules; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gastrointestinal hemorrhage; Infantile onset; Myelodysplasia; Myelofibrosis; Prolonged bleeding time; Reduced prothrombin consumption; Splenomegaly; Thrombocytopenia; Variable expressivity
GGCX2p11.299.99%gene with protein product137167Abnormal bleeding; Abnormality of coagulation; Abnormality of the optic nerve; Absent retinal pigment epithelium; Angioid streaks of the fundus; Atherosclerosis; Attenuation of retinal blood vessels; Autosomal recessive inheritance; Bruising susceptibility; Cutis laxa; Epiphyseal stippling; Epistaxis; Increased number of skin folds; Joint hemorrhage; Nyctalopia; Papule; Prolonged partial thromboplastin time; Reduced factor IX activity; Reduced factor VII activity; Reduced factor X activity; Reduced prothrombin activity; Redundant skin; Rod-cone dystrophy; Short distal phalanx of finger; Short nose; Strabismus
GNAS20q13.3299.88%gene with protein product139320GNAS1Abnormality of the musculature; Abnormality of the skin; Adult onset; Agitation; Anxiety; Autosomal dominant inheritance; Basal ganglia calcification; Blindness; Bone pain; Brachydactyly; Broad 1st metacarpal; Bruising susceptibility; Cardiomyopathy; Cataract; Choroid plexus calcification; Coarse facial features; Cognitive impairment; Constrictive median neuropathy; Craniofacial hyperostosis; Decreased circulating ACTH level; Delayed eruption of teeth; Depressed nasal bridge; Depressivity; Diabetes mellitus; Ectopic calcification; Ectopic ossification; Ectopic ossification in muscle tissue; Elevated circulating parathyroid hormone level; Facial asymmetry; Failure to thrive; Fatigue; Fibrous dysplasia of the bones; Full cheeks; Galactorrhea; Generalized hirsutism; Generalized hyperpigmentation; Growth delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Hyperparathyroidism; Hyperphosphatemia; Hypertension; Hyperthyroidism; Hypocalcemia; Hypocalcemic tetany; Hypogonadism; Hypophosphatemia; Hypoplasia of dental enamel; Hypothyroidism; Increased bone mineral density; Increased circulating cortisol level; Increased serum insulin-like growth factor 1; Infantile onset; Intellectual disability; Intestinal polyposis; Juvenile onset; Kyphosis; Large cafe-au-lait macules with irregular margins; Left ventricular hypertrophy; Limitation of joint mobility; Low urinary cyclic AMP response to PTH administration; Macronodular adrenal hyperplasia; Menometrorrhagia; Menstrual irregularities; Mental deterioration; Mood changes; Multiple cafe-au-lait spots; Muscle weakness; Neoplasm; Nephrolithiasis; Nystagmus; Obesity; Osteoma; Osteopenia; Osteoporosis; Pathologic fracture; Phenotypic variability; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary prolactin cell adenoma; Pituitary resistance to thyroid hormone; Polyostotic fibrous dysplasia; Polyphagia; Precocious puberty; Primary hypercorticolism; Progressive; Prolactin excess; Prolactinoma; Pseudohypoparathyroidism; Psychosis; Recurrent fractures; Reduced bone mineral density; Round face; Seizures; Short 4th metacarpal; Short 5th metacarpal; Short fifth metatarsal; Short finger; Short metacarpal; Short metatarsal; Short neck; Short stature; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Somatic mosaicism; Somatic mutation; Sporadic; Striae distensae; Subcutaneous nodule; Thickened calvaria; Thin skin; Truncal obesity; Variable expressivityObesity
GNAS20q13.3299.88%gene with protein product139320GNAS1Abnormality of the musculature; Abnormality of the skin; Adult onset; Agitation; Anxiety; Autosomal dominant inheritance; Basal ganglia calcification; Blindness; Bone pain; Brachydactyly; Broad 1st metacarpal; Bruising susceptibility; Cardiomyopathy; Cataract; Choroid plexus calcification; Coarse facial features; Cognitive impairment; Constrictive median neuropathy; Craniofacial hyperostosis; Decreased circulating ACTH level; Delayed eruption of teeth; Depressed nasal bridge; Depressivity; Diabetes mellitus; Ectopic calcification; Ectopic ossification; Ectopic ossification in muscle tissue; Elevated circulating parathyroid hormone level; Facial asymmetry; Failure to thrive; Fatigue; Fibrous dysplasia of the bones; Full cheeks; Galactorrhea; Generalized hirsutism; Generalized hyperpigmentation; Growth delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Hyperparathyroidism; Hyperphosphatemia; Hypertension; Hyperthyroidism; Hypocalcemia; Hypocalcemic tetany; Hypogonadism; Hypophosphatemia; Hypoplasia of dental enamel; Hypothyroidism; Increased bone mineral density; Increased circulating cortisol level; Increased serum insulin-like growth factor 1; Infantile onset; Intellectual disability; Intestinal polyposis; Juvenile onset; Kyphosis; Large cafe-au-lait macules with irregular margins; Left ventricular hypertrophy; Limitation of joint mobility; Low urinary cyclic AMP response to PTH administration; Macronodular adrenal hyperplasia; Menometrorrhagia; Menstrual irregularities; Mental deterioration; Mood changes; Multiple cafe-au-lait spots; Muscle weakness; Neoplasm; Nephrolithiasis; Nystagmus; Obesity; Osteoma; Osteopenia; Osteoporosis; Pathologic fracture; Phenotypic variability; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary prolactin cell adenoma; Pituitary resistance to thyroid hormone; Polyostotic fibrous dysplasia; Polyphagia; Precocious puberty; Primary hypercorticolism; Progressive; Prolactin excess; Prolactinoma; Pseudohypoparathyroidism; Psychosis; Recurrent fractures; Reduced bone mineral density; Round face; Seizures; Short 4th metacarpal; Short 5th metacarpal; Short fifth metatarsal; Short finger; Short metacarpal; Short metatarsal; Short neck; Short stature; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Somatic mosaicism; Somatic mutation; Sporadic; Striae distensae; Subcutaneous nodule; Thickened calvaria; Thin skin; Truncal obesity; Variable expressivityObesity
GP1BA17p13.299.92%gene with protein product606672GP1BAbnormal bleeding; Abnormality of abdomen morphology; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gingival bleeding; Hemolytic anemia; Increased mean platelet volume; Intermittent thrombocytopenia; Menorrhagia; Petechiae; Prolonged bleeding after dental extraction; Prolonged bleeding time; Purpura; Splenomegaly; Stomatocytosis; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes
GP619q13.4291.35%gene with protein product605546Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Infantile onset; Menorrhagia; Prolonged bleeding time; Variable expressivity
HBA116p13.394.95%gene with protein product141800Abnormal hemoglobin; Abnormality of metabolism/homeostasis; Anemia; Aplasia/Hypoplasia of the earlobes; Autosomal dominant inheritance; Broad forehead; Bruising susceptibility; Congestive heart failure; Cryptorchidism; Downslanted palpebral fissures; Epicanthus; Failure to thrive; Fatigue; Heinz body anemia; Hemoglobin H; Hemolytic anemia; Hepatomegaly; High forehead; High palate; Hydrocephalus; Hydrops fetalis; Hypertelorism; Hypochromic microcytic anemia; Intellectual disability; Low-set, posteriorly rotated ears; Malar flattening; Microcephaly; Microcytic anemia; Micrognathia; Muscular hypotonia; Neurological speech impairment; Nonspherocytic hemolytic anemia; Oligohydramnios; Pallor; Pectus carinatum; Polyhydramnios; Preeclampsia; Reduced alpha/beta synthesis ratio; Retrognathia; Short neck; Short stature; Short toe; Splenomegaly; Talipes equinovarus; Wide nasal bridgeHemolytic Anemia
HBA216p13.371.52%gene with protein product141850Abnormal hemoglobin; Abnormality of metabolism/homeostasis; Anemia; Aplasia/Hypoplasia of the earlobes; Autosomal dominant inheritance; Broad forehead; Bruising susceptibility; Congestive heart failure; Cryptorchidism; Downslanted palpebral fissures; Epicanthus; Failure to thrive; Fatigue; Heinz body anemia; Hemoglobin H; Hemolytic anemia; Hepatomegaly; High forehead; High palate; Hydrocephalus; Hydrops fetalis; Hypertelorism; Hypochromic microcytic anemia; Intellectual disability; Low-set, posteriorly rotated ears; Malar flattening; Microcephaly; Microcytic anemia; Micrognathia; Muscular hypotonia; Neurological speech impairment; Nonspherocytic hemolytic anemia; Oligohydramnios; Pallor; Pectus carinatum; Polyhydramnios; Preeclampsia; Reduced alpha/beta synthesis ratio; Retrognathia; Short neck; Short stature; Short toe; Splenomegaly; Talipes equinovarus; Wide nasal bridgeHemolytic Anemia
HPS110q24.2100%gene with protein product604982HPSAbdominal pain; Abnormality of the hair; Albinism; Autosomal recessive inheritance; Bruising susceptibility; Cardiomyopathy; Epistaxis; Freckles in sun-exposed areas; Freckling; Gingival bleeding; Hematochezia; Heterogeneous; Inflammation of the large intestine; Melanocytic nevus; Nystagmus; Ocular albinism; Prolonged bleeding time; Pulmonary fibrosis; Renal insufficiency; Restrictive ventilatory defect; Severe visual impairmentAlbinism
HPS511p15.1100%gene with protein product607521Albinism; Autosomal recessive inheritance; Bruising susceptibility; Ocular albinism; ThrombocytopeniaAlbinism
ITGA25q11.2100%gene with protein product192974CD49BAutosomal dominant inheritance; Bruising susceptibility; Congenital onset; Thrombocytopenia
ITGA2B17q21.31100%gene with protein product607759GP2BAnemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Decreased platelet glycoprotein IIb-IIIa; Epistaxis; Gastrointestinal hemorrhage; Giant platelets; Gingival bleeding; Impaired platelet aggregation; Intracranial hemorrhage; Macrothrombocytopenia; Menorrhagia; Petechiae; Prolonged bleeding time; Purpura
ITGB317q21.32100%gene with protein product173470GP3AAnemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Decreased platelet glycoprotein IIb-IIIa; Epistaxis; Gastrointestinal hemorrhage; Giant platelets; Gingival bleeding; Impaired platelet aggregation; Intracranial hemorrhage; Macrothrombocytopenia; Menorrhagia; Petechiae; Prolonged bleeding time; Purpura
JAK29p24.199.18%gene with protein product147796Abdominal pain; Abnormal bleeding; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Angina pectoris; Arterial thrombosis; Arthralgia; Ascites; Autosomal dominant inheritance; Bruising susceptibility; Budd-Chiari syndrome; Cerebral hemorrhage; Cerebral ischemia; Chest pain; Cirrhosis; Elevated hepatic transaminases; Epistaxis; Esophageal varix; Exertional dyspnea; Fatigue; Fever; Gastrointestinal hemorrhage; Gingival bleeding; Headache; Hepatomegaly; Hyperhidrosis; Hypertension; Increased hematocrit; Increased hemoglobin; Increased megakaryocyte count; Increased red blood cell mass; Leukocytosis; Myelodysplasia; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Paresthesia; Peripheral arterial stenosis; Peripheral thrombosis; Plethora; Portal hypertension; Prolonged bleeding time; Pruritus; Respiratory insufficiency; Somatic mutation; Splenomegaly; Sporadic; Thrombocytopenia; Thrombocytosis; Thromboembolism; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossBone Marrow Failure Syndromes
KRT1417q21.2100%gene with protein product148066EBS3, EBS4Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of dental enamel; Abnormality of the conjunctiva; Abnormality of the nail; Adermatoglyphia; Alopecia of scalp; Anemia; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Carious teeth; Congenital onset; Dermal atrophy; Diffuse palmoplantar keratoderma; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Fragile nails; Generalized hyperkeratosis; Growth delay; Heat intolerance; Hyperhidrosis; Hypohidrosis; Hypohidrosis or hyperhidrosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Milia; Nail dysplasia; Nail dystrophy; Neonatal onset; Ophthalmoparesis; Oral leukoplakia; Palmoplantar blistering; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Premature loss of teeth; Prematurely aged appearance; Ptosis; Recurrent skin infections; Reticular hyperpigmentation; Reticulate pigmentation of oral mucosa; Reticulated skin pigmentation; Ridged nail; Skin vesicle; Subcutaneous hemorrhage; Thick nail; Variable expressivityEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
KRT1417q21.2100%gene with protein product148066EBS3, EBS4Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of dental enamel; Abnormality of the conjunctiva; Abnormality of the nail; Adermatoglyphia; Alopecia of scalp; Anemia; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Carious teeth; Congenital onset; Dermal atrophy; Diffuse palmoplantar keratoderma; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Fragile nails; Generalized hyperkeratosis; Growth delay; Heat intolerance; Hyperhidrosis; Hypohidrosis; Hypohidrosis or hyperhidrosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Milia; Nail dysplasia; Nail dystrophy; Neonatal onset; Ophthalmoparesis; Oral leukoplakia; Palmoplantar blistering; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Premature loss of teeth; Prematurely aged appearance; Ptosis; Recurrent skin infections; Reticular hyperpigmentation; Reticulate pigmentation of oral mucosa; Reticulated skin pigmentation; Ridged nail; Skin vesicle; Subcutaneous hemorrhage; Thick nail; Variable expressivityEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
KRT512q13.13100%gene with protein product148040EBS2Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of dental enamel; Abnormality of skin pigmentation; Abnormality of the nail; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Congenital onset; Dermal atrophy; Discrete 2 to 5-mm hyper- and hypopigmented macules; Erythema; Generalized hyperkeratosis; Growth delay; Hyperhidrosis; Hypopigmented skin patches; Milia; Mottled pigmentation of the trunk and proximal extremities; Nail dysplasia; Nail dystrophy; Neonatal onset; Ophthalmoparesis; Oral leukoplakia; Palmoplantar blistering; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Prematurely aged appearance; Progressive reticulate hyperpigmentation; Ptosis; Punctate palmoplantar hyperkeratosis; Recurrent skin infections; Reticulated skin pigmentation; Ridged nail; Skin rash; Skin vesicle; Subcutaneous hemorrhage; Thick nail; Variable expressivityPalmoplantar keratoderma plus congenital ichthyosis
KRT512q13.13100%gene with protein product148040EBS2Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of dental enamel; Abnormality of skin pigmentation; Abnormality of the nail; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Congenital onset; Dermal atrophy; Discrete 2 to 5-mm hyper- and hypopigmented macules; Erythema; Generalized hyperkeratosis; Growth delay; Hyperhidrosis; Hypopigmented skin patches; Milia; Mottled pigmentation of the trunk and proximal extremities; Nail dysplasia; Nail dystrophy; Neonatal onset; Ophthalmoparesis; Oral leukoplakia; Palmoplantar blistering; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Prematurely aged appearance; Progressive reticulate hyperpigmentation; Ptosis; Punctate palmoplantar hyperkeratosis; Recurrent skin infections; Reticulated skin pigmentation; Ridged nail; Skin rash; Skin vesicle; Subcutaneous hemorrhage; Thick nail; Variable expressivityPalmoplantar keratoderma plus congenital ichthyosis
LYST1q42.399.95%gene with protein product606897CHS1Abnormality of coagulation; Abnormality of multiple cell lineages in the bone marrow; Amblyopia; Anemia; Areflexia; Autosomal recessive inheritance; Bruising susceptibility; Cranial nerve paralysis; Decreased nerve conduction velocity; Edema; Epistaxis; Fever; Foot dorsiflexor weakness; Gait disturbance; Generalized hypopigmentation; Giant melanosomes in melanocytes; Gingival bleeding; Gingivitis; Global developmental delay; Hepatomegaly; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Immunodeficiency; Intellectual disability; Iris hypopigmentation; Jaundice; Leukopenia; Lymphadenopathy; Lymphoma; Macular hypoplasia; Neurodegeneration; Neutropenia; Nystagmus; Ocular albinism; Paresthesia; Periodontitis; Peripheral neuropathy; Photophobia; Progressive peripheral neuropathy; Recurrent bacterial skin infections; Recurrent cutaneous abscess formation; Recurrent respiratory infections; Recurrent systemic pyogenic infections; Reduced visual acuity; Seizures; Skin ulcer; Splenomegaly; Strabismus; Thrombocytopenia; Tremor; Visual impairment; White hairAlbinism ; Aplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
LYST1q42.399.95%gene with protein product606897CHS1Abnormality of coagulation; Abnormality of multiple cell lineages in the bone marrow; Amblyopia; Anemia; Areflexia; Autosomal recessive inheritance; Bruising susceptibility; Cranial nerve paralysis; Decreased nerve conduction velocity; Edema; Epistaxis; Fever; Foot dorsiflexor weakness; Gait disturbance; Generalized hypopigmentation; Giant melanosomes in melanocytes; Gingival bleeding; Gingivitis; Global developmental delay; Hepatomegaly; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Immunodeficiency; Intellectual disability; Iris hypopigmentation; Jaundice; Leukopenia; Lymphadenopathy; Lymphoma; Macular hypoplasia; Neurodegeneration; Neutropenia; Nystagmus; Ocular albinism; Paresthesia; Periodontitis; Peripheral neuropathy; Photophobia; Progressive peripheral neuropathy; Recurrent bacterial skin infections; Recurrent cutaneous abscess formation; Recurrent respiratory infections; Recurrent systemic pyogenic infections; Reduced visual acuity; Seizures; Skin ulcer; Splenomegaly; Strabismus; Thrombocytopenia; Tremor; Visual impairment; White hairAlbinism ; Aplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
MASTL10p12.199.98%gene with protein product608221Autosomal dominant inheritance; Bruising susceptibility; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes
MPL1p34.2100%gene with protein product159530Abdominal pain; Abnormal bleeding; Abnormal form of the vertebral bodies; Abnormal hemoglobin; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Amegakaryocytic thrombocytopenia; Anemia; Angina pectoris; Arterial thrombosis; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Cerebellar vermis hypoplasia; Chest pain; Coarse facial features; Epistaxis; Fatigue; Gingival bleeding; Headache; Hepatomegaly; Hyperhidrosis; Increased megakaryocyte count; Megakaryocytopenia; Melanocytic nevus; Myelodysplasia; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Pancytopenia; Paresthesia; Peripheral arterial stenosis; Prolonged bleeding time; Pruritus; Respiratory insufficiency; Scoliosis; Short neck; Short stature; Somatic mutation; Splenomegaly; Thrombocytopenia; Thrombocytosis; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
MYH922q12.3100%gene with protein product160775DFNA17Abnormal thrombosis; Abnormality of the eye; Abnormality of the urinary system; Autosomal dominant inheritance; Bruising susceptibility; Cataract; Congenital cataract; Epistaxis; Gastrointestinal hemorrhage; Giant platelets; Hematuria; High-frequency hearing impairment; High-frequency sensorineural hearing impairment; Hypertension; Juvenile onset; Leukocyte inclusion bodies; Macrothrombocytopenia; Menorrhagia; Microscopic hematuria; Myocardial infarction; Nephritis; Neutrophil inclusion bodies; Progressive sensorineural hearing impairment; Prolonged bleeding time; Proteinuria; Stage 5 chronic kidney disease; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
MYH922q12.3100%gene with protein product160775DFNA17Abnormal thrombosis; Abnormality of the eye; Abnormality of the urinary system; Autosomal dominant inheritance; Bruising susceptibility; Cataract; Congenital cataract; Epistaxis; Gastrointestinal hemorrhage; Giant platelets; Hematuria; High-frequency hearing impairment; High-frequency sensorineural hearing impairment; Hypertension; Juvenile onset; Leukocyte inclusion bodies; Macrothrombocytopenia; Menorrhagia; Microscopic hematuria; Myocardial infarction; Nephritis; Neutrophil inclusion bodies; Progressive sensorineural hearing impairment; Prolonged bleeding time; Proteinuria; Stage 5 chronic kidney disease; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
MYH922q12.3100%gene with protein product160775DFNA17Abnormal thrombosis; Abnormality of the eye; Abnormality of the urinary system; Autosomal dominant inheritance; Bruising susceptibility; Cataract; Congenital cataract; Epistaxis; Gastrointestinal hemorrhage; Giant platelets; Hematuria; High-frequency hearing impairment; High-frequency sensorineural hearing impairment; Hypertension; Juvenile onset; Leukocyte inclusion bodies; Macrothrombocytopenia; Menorrhagia; Microscopic hematuria; Myocardial infarction; Nephritis; Neutrophil inclusion bodies; Progressive sensorineural hearing impairment; Prolonged bleeding time; Proteinuria; Stage 5 chronic kidney disease; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
NBEAL23p21.3199.37%gene with protein product614169Abnormality of the menstrual cycle; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Impaired collagen-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Menorrhagia; Myelodysplasia; Myelofibrosis; Progressive; Prolonged bleeding time; Reduced quantity of Von Willebrand factor; Reduced von Willebrand factor activity; Splenomegaly; Thrombocytopenia
NBEAL23p21.3199.37%gene with protein product614169Abnormality of the menstrual cycle; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Impaired collagen-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Menorrhagia; Myelodysplasia; Myelofibrosis; Progressive; Prolonged bleeding time; Reduced quantity of Von Willebrand factor; Reduced von Willebrand factor activity; Splenomegaly; Thrombocytopenia
NFIX19p13.1393.01%gene with protein product164005Accelerated skeletal maturation; Advanced eruption of teeth; Agenesis of corpus callosum; Anteverted nares; Anxiety; Astigmatism; Atlantoaxial dislocation; Atrial septal defect; Autosomal dominant inheritance; Blue sclerae; Bowing of the long bones; Bruising susceptibility; Bullet-shaped middle phalanges of the hand; Cerebral atrophy; Choanal atresia; Choanal stenosis; Conductive hearing impairment; Coxa valga; Cutis marmorata; Death in childhood; Decreased body weight; Delayed speech and language development; Depressed nasal bridge; Distal widening of metacarpals; Downslanted palpebral fissures; Eclabion; Everted lower lip vermilion; Failure to thrive; Frontal bossing; Generalized hirsutism; Generalized hypotonia; Gingival overgrowth; Glossoptosis; Hearing impairment; High forehead; Hypermetropia; Hypertelorism; Hypoplasia of the odontoid process; Increased susceptibility to fractures; Intellectual disability; Irregular dentition; Joint hyperflexibility; Large sternal ossification centers; Laryngomalacia; Long face; Long fingers; Low-set ears; Macrocephaly; Macrogyria; Malar flattening; Mandibular prognathia; Midface retrusion; Motor delay; Narrow face; Narrow mouth; Nystagmus; Obstructive sleep apnea; Omphalocele; Open mouth; Overfolded helix; Overgrowth; Patent ductus arteriosus; Pectus excavatum; Prominence of the premaxilla; Prominent forehead; Proptosis; Protruding tongue; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Reduced bone mineral density; Retrognathia; Scoliosis; Shallow orbits; Short distal phalanx of finger; Short mandibular rami; Short nose; Short philtrum; Short sternum; Slender long bone; Sporadic; Strabismus; Synophrys; Tall stature; Thick eyebrow; Thin skin; Umbilical hernia; Ventriculomegaly
P2RX117p13.399.99%gene with protein product600845Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Impaired ADP-induced platelet aggregation; Persistent bleeding after trauma; Prolonged bleeding after surgery
P2RY123q25.1100%gene with protein product600515Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Impaired ADP-induced platelet aggregation; Persistent bleeding after trauma; Prolonged bleeding after surgery
PDE11A2q31.299.8%gene with protein product604961Adrenal hyperplasia; Agitation; Anxiety; Autosomal dominant inheritance; Bruising susceptibility; Decreased circulating ACTH level; Depressivity; Diabetes mellitus; Fatigue; Hypertension; Hypogonadism; Increased susceptibility to fractures; Kyphosis; Mental deterioration; Mood changes; Muscle weakness; Onset; Osteopenia; Osteoporosis; Paradoxical increased cortisol secretion on dexamethasone suppression test; Pigmented micronodular adrenocortical disease; Primary hypercorticolism; Psychosis; Round face; Short stature; Skeletal muscle atrophy; Slender build; Striae distensae; Thin skin; Truncal obesityObesity
PLAU10q22.2100%gene with protein product191840Autosomal dominant inheritance; Bruising susceptibility; Epistaxis; Impaired epinephrine-induced platelet aggregation; Joint hemorrhage; Menorrhagia; Thrombocytopenia
PLEC8q24.3100%gene with protein product601282EBS1, PLEC1Abnormal blistering of the skin; Abnormality of dental enamel; Abnormality of the genitourinary system; Abnormality of the stomach; Alopecia; Anemia; Anonychia; Aphasia; Aplasia cutis congenita; Aplasia of the bladder; Arthrogryposis multiplex congenita; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary pterygia; Bruising susceptibility; Carious teeth; Congenital onset; Congenital pyloric atresia; Death in infancy; Deeply set eye; Dehydration; Dermal atrophy; Difficulty climbing stairs; Dysphagia; Dysphasia; Echolalia; Ectropion; Elevated maternal serum alpha-fetoprotein; Elevated serum creatine phosphokinase; Esophageal atresia; Failure to thrive; Flexion contracture; Fragile skin; Generalized muscle weakness; Glomerulosclerosis; Gowers sign; Hydronephrosis; Hyperconvex fingernails; Hypoplasia of dental enamel; Hypoplastic fingernail; Increased connective tissue; Intractable diarrhea; Junctional split; Keratitis; Limitation of joint mobility; Lumbar hyperlordosis; Microtia; Milia; Motor delay; Muscle flaccidity; Muscular dystrophy; Mutism; Myopathy; Nail dysplasia; Nail dystrophy; Neonatal respiratory distress; Oculomotor nerve palsy; Onychogryposis of toenails; Ophthalmoplegia; Oral mucosal blisters; Palmoplantar hyperkeratosis; Papule; Plantar hyperkeratosis; Polyhydramnios; Premature birth; Ptosis; Punctate keratitis; Rapidly progressive; Renal dysplasia; Scarring alopecia of scalp; Sepsis; Short stature; Skeletal muscle atrophy; Skin erosion; Skin fragility with non-scarring blistering; Skin vesicle; Thick nail; Underdeveloped nasal alae; Ureterocele; Urethral stricture
PLEC8q24.3100%gene with protein product601282EBS1, PLEC1Abnormal blistering of the skin; Abnormality of dental enamel; Abnormality of the genitourinary system; Abnormality of the stomach; Alopecia; Anemia; Anonychia; Aphasia; Aplasia cutis congenita; Aplasia of the bladder; Arthrogryposis multiplex congenita; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary pterygia; Bruising susceptibility; Carious teeth; Congenital onset; Congenital pyloric atresia; Death in infancy; Deeply set eye; Dehydration; Dermal atrophy; Difficulty climbing stairs; Dysphagia; Dysphasia; Echolalia; Ectropion; Elevated maternal serum alpha-fetoprotein; Elevated serum creatine phosphokinase; Esophageal atresia; Failure to thrive; Flexion contracture; Fragile skin; Generalized muscle weakness; Glomerulosclerosis; Gowers sign; Hydronephrosis; Hyperconvex fingernails; Hypoplasia of dental enamel; Hypoplastic fingernail; Increased connective tissue; Intractable diarrhea; Junctional split; Keratitis; Limitation of joint mobility; Lumbar hyperlordosis; Microtia; Milia; Motor delay; Muscle flaccidity; Muscular dystrophy; Mutism; Myopathy; Nail dysplasia; Nail dystrophy; Neonatal respiratory distress; Oculomotor nerve palsy; Onychogryposis of toenails; Ophthalmoplegia; Oral mucosal blisters; Palmoplantar hyperkeratosis; Papule; Plantar hyperkeratosis; Polyhydramnios; Premature birth; Ptosis; Punctate keratitis; Rapidly progressive; Renal dysplasia; Scarring alopecia of scalp; Sepsis; Short stature; Skeletal muscle atrophy; Skin erosion; Skin fragility with non-scarring blistering; Skin vesicle; Thick nail; Underdeveloped nasal alae; Ureterocele; Urethral stricture
PLOD11p36.2299.99%gene with protein product153454LLH, PLODAbnormality of metabolism/homeostasis; Abnormality of the hip bone; Aortic dissection; Arachnodactyly; Arterial dissection; Arterial rupture; Atypical scarring of skin; Autosomal recessive inheritance; Bladder diverticulum; Blindness; Blue sclerae; Bruising susceptibility; Congestive heart failure; Decreased fetal movement; Decreased pulmonary function; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Epicanthus; Gait disturbance; Gastrointestinal hemorrhage; Generalized hypotonia; Generalized joint laxity; Glaucoma; Hyperextensible skin; Inguinal hernia; Joint dislocation; Joint hyperflexibility; Joint laxity; Keratoconus; Kyphosis; Microcornea; Mitral valve prolapse; Molluscoid pseudotumors; Motor delay; Myopia; Neonatal hypotonia; Osteoporosis; Palmoplantar cutis laxa; Pes planus; Premature rupture of membranes; Progressive congenital scoliosis; Recurrent pneumonia; Respiratory insufficiency; Retinal detachment; Retinopathy; Scoliosis; Soft skin; Spontaneous rupture of the globe; Subcutaneous hemorrhage; Talipes equinovarus; Tall stature; Thin skin; Visual impairment
PLOD37q22.1100%gene with protein product603066Abnormality of the pinna; Anteverted nares; Arterial rupture; Autosomal recessive inheritance; Bruising susceptibility; Cataract; Coarse hair; Decreased palmar creases; Diaphragmatic eventration; Dilatation of the cerebral artery; Downturned corners of mouth; Elbow flexion contracture; Flat face; Global developmental delay; Hearing impairment; Hypoplasia of the capital femoral epiphysis; Intrauterine growth retardation; J-shaped sella turcica; Long philtrum; Low-set ears; Malar flattening; Myopia; Nail dysplasia; Osteopenia; Pathologic fracture; Platyspondyly; Postnatal growth retardation; Scoliosis; Shallow orbits; Short nose; Talipes equinovarus; Thenar muscle atrophy
PRDM54q2799.55%gene with protein product614161Abnormality of hair pigmentation; Autosomal recessive inheritance; Blue sclerae; Bruising susceptibility; Conductive hearing impairment; Corneal dystrophy; Corneal scarring; Gait disturbance; Hearing impairment; High myopia; Hyperextensible skin; Joint hyperflexibility; Keratoconus; Keratoglobus; Myalgia; Myopia; Osteoporosis; Sensorineural hearing impairment; Soft skin; Visual loss
PRKACA19p13.1100%gene with protein product601639Acne; Adrenal hyperplasia; Alopecia; Autosomal dominant inheritance; Bruising susceptibility; Depressivity; Diabetes mellitus; Dorsocervical fat pad; Emotional lability; Fatigue; Fragile skin; Hirsutism; Hypertension; Hypogonadism; Increased body weight; Increased susceptibility to fractures; Moon facies; Muscle weakness; Osteopenia; Osteoporosis; Pigmented micronodular adrenocortical disease; Primary hypercorticolism; Proximal muscle weakness; Short stature; Skeletal muscle atrophy; Slender build; Striae distensae; Thin skin
PRKAR1A17q24.2100%gene with protein product188830PRKAR1, TSE1Abnormal form of the vertebral bodies; Abnormal prolactin level; Abnormality of circulating adrenocorticotropin level; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the eye; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Adrenal hyperplasia; Agitation; Anteverted nares; Anxiety; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bacterial endocarditis; Blue irides; Blue nevus; Brachycephaly; Brachydactyly; Broad nasal tip; Broad palm; Bruising susceptibility; Calvarial hyperostosis; Cardiac myxoma; Cerebral venous thrombosis; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congestive heart failure; Cryptorchidism; Decreased circulating ACTH level; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Depressivity; Diabetes mellitus; Dislocated radial head; Disproportionate short-limb short stature; Easy fatigability; Elevated calcitonin; Elevated circulating parathyroid hormone level; Enlarged polycystic ovaries; Epicanthus; Epiphyseal stippling; Exertional dyspnea; Fatigue; Freckling; Global developmental delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Heart murmur; Heterogeneous; Hirsutism; Hydrocephalus; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypertension; Hypocalcemia; Hypodontia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased circulating cortisol level; Increased intracranial pressure; Increased susceptibility to fractures; Increased urinary cortisol level; Intellectual disability; Intrauterine growth retardation; Kyphosis; Long hallux; Malar flattening; Mandibular prognathia; Melanocytic nevus; Menstrual irregularities; Mental deterioration; Micromelia; Midface retrusion; Mild postnatal growth retardation; Mild short stature; Mood changes; Multiple lentigines; Muscle weakness; Myxoid subcutaneous tumors; Narrow vertebral interpedicular distance; Neonatal epiphyseal stippling; Nevus; Obesity; Onset; Open mouth; Optic atrophy; Osteopenia; Osteoporosis; Paradoxical increased cortisol secretion on dexamethasone suppression test; Peripheral neuropathy; Peripheral Schwannoma; Pheochromocytoma; Pigmented micronodular adrenocortical disease; Pituitary adenoma; Pituitary growth hormone cell adenoma; Primary hypercorticolism; Profuse pigmented skin lesions; Pseudohypoparathyroidism; Psychosis; Pulmonic valve myxoma; Red hair; Round face; Schwannoma; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short palm; Short phalanx of finger; Short stature; Short toe; Skeletal muscle atrophy; Slender build; Specific learning disability; Spinal canal stenosis; Strabismus; Striae distensae; Thin skin; Thyroid adenoma; Thyroid carcinoma; Thyroid follicular hyperplasia; Truncal obesity; Vestibular Schwannoma; Wide nasal bridgeHeterotaxy ; Obesity
RIN220p11.23100%gene with protein product610222Abnormality of the sternum; Alopecia; Autosomal recessive inheritance; Bruising susceptibility; Coarse facial features; Cognitive impairment; Cutis laxa; Decreased body weight; Downslanted palpebral fissures; Eclabion; Gingival overgrowth; High palate; High pitched voice; Hirsutism; Hyperextensible skin; Infra-orbital fold; Irregular dentition; Joint hypermobility; Long philtrum; Muscular hypotonia; Palpebral edema; Pes planus; Prolonged bleeding time; Redundant skin; Scoliosis; Short stature; Sparse and thin eyebrow; Sparse hair; Sparse scalp hair; Thick lower lip vermilion; Umbilical hernia; Upper eyelid edema
RIN220p11.23100%gene with protein product610222Abnormality of the sternum; Alopecia; Autosomal recessive inheritance; Bruising susceptibility; Coarse facial features; Cognitive impairment; Cutis laxa; Decreased body weight; Downslanted palpebral fissures; Eclabion; Gingival overgrowth; High palate; High pitched voice; Hirsutism; Hyperextensible skin; Infra-orbital fold; Irregular dentition; Joint hypermobility; Long philtrum; Muscular hypotonia; Palpebral edema; Pes planus; Prolonged bleeding time; Redundant skin; Scoliosis; Short stature; Sparse and thin eyebrow; Sparse hair; Sparse scalp hair; Thick lower lip vermilion; Umbilical hernia; Upper eyelid edema
RUNX121q22.12100%gene with protein product151385AML1, CBFA2Abnormality of basophils; Acute monocytic leukemia; Acute myeloid leukemia; Autosomal dominant inheritance; Bruising susceptibility; Epistaxis; Fatigue; Fever; Impaired platelet aggregation; Leukocytosis; Lymphoma; Myelodysplasia; Myeloproliferative disorder; Neuroblastoma; Poor appetite; Prolonged bleeding time; Splenomegaly; Thrombocytopenia; ThrombocytosisAplastic Anemia ; Bone Marrow Failure Syndromes
SCARB24q21.1100%gene with protein product602257CD36L2Abdominal pain; Anemia; Anorexia; Aseptic necrosis; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Cerebellar atrophy; Delayed puberty; Delayed skeletal maturation; Dysarthria; Dysphagia; EEG with polyspike wave complexes; Focal segmental glomerulosclerosis; Gait ataxia; Generalized seizures; Gingival bleeding; Hepatomegaly; Hypersplenism; Increased bone mineral density; Intention tremor; Kyphosis; Limb ataxia; Morning myoclonic jerks; Myoclonus; Nephropathy; Nephrotic syndrome; Osteolysis; Osteopenia; Pancytopenia; Postural tremor; Proteinuria; Rapidly progressive; Renal insufficiency; Splenomegaly; Thrombocytopenia
SERPINF217p13.399.94%gene with protein product613168PLIAutosomal recessive inheritance; Bruising susceptibility; Hematuria; Hemothorax; Intramuscular hematoma; Joint hemorrhage; Persistent bleeding after trauma; Reduced euglobulin clot lysis time
SLC2A1020q13.12100%gene with protein product606145Abnormal carotid artery morphology; Abnormal thrombosis; Aortic dissection; Aortic regurgitation; Aortic root aneurysm; Aortic tortuosity; Aortic valve stenosis; Arachnodactyly; Arterial stenosis; Autosomal recessive inheritance; Blepharophimosis; Bruising susceptibility; Congenital diaphragmatic hernia; Congenital onset; Congestive heart failure; Convex nasal ridge; Craniosynostosis; Cutis laxa; Downslanted palpebral fissures; Fatigue; Femoral hernia; Flexion contracture; Generalized arterial tortuosity; Generalized hypotonia; Hiatus hernia; High palate; Hyperextensible skin; Hypertelorism; Hypertension; Inguinal hernia; Ischemic stroke; Joint hyperflexibility; Joint laxity; Long face; Long philtrum; Macrotia; Median cleft lip and palate; Micrognathia; Pectus carinatum; Pectus excavatum; Pulmonary artery stenosis; Soft, doughy skin; Telangiectases of the cheeks; Telangiectasia of the skin; Thin skin; Umbilical hernia; Ventricular hypertrophy
SLC39A1311p11.2100%gene with protein product608735Abnormality of the metaphysis; Absent palmar crease; Autosomal recessive inheritance; Bifid uvula; Blue sclerae; Broad femoral neck; Bruising susceptibility; Camptodactyly of finger; Cigarette-paper scars; Delayed eruption of teeth; Dental malocclusion; Downslanted palpebral fissures; Failure to thrive; Flat capital femoral epiphysis; High palate; Hyperextensible skin; Hypodontia; Irregular vertebral endplates; Joint laxity; Metaphyseal widening; Moderately short stature; Osteopenia; Pes planus; Platyspondyly; Prominent superficial veins; Proptosis; Short femoral neck; Short metacarpal; Short phalanx of finger; Skeletal dysplasia; Tapered finger; Thenar muscle atrophy; Thin skin; Waddling gait
SLC39A1311p11.2100%gene with protein product608735Abnormality of the metaphysis; Absent palmar crease; Autosomal recessive inheritance; Bifid uvula; Blue sclerae; Broad femoral neck; Bruising susceptibility; Camptodactyly of finger; Cigarette-paper scars; Delayed eruption of teeth; Dental malocclusion; Downslanted palpebral fissures; Failure to thrive; Flat capital femoral epiphysis; High palate; Hyperextensible skin; Hypodontia; Irregular vertebral endplates; Joint laxity; Metaphyseal widening; Moderately short stature; Osteopenia; Pes planus; Platyspondyly; Prominent superficial veins; Proptosis; Short femoral neck; Short metacarpal; Short phalanx of finger; Skeletal dysplasia; Tapered finger; Thenar muscle atrophy; Thin skin; Waddling gait
SLFN1417q12100%gene with protein product614958Autosomal dominant inheritance; Bruising susceptibility; Epistaxis; Menorrhagia; Thrombocytopenia
SMAD315q22.3399.95%gene with protein product603109MADH3Abnormality iris morphology; Abnormality of the sternum; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Arachnodactyly; Arterial tortuosity; Ascending aortic dissection; Atrial fibrillation; Autosomal dominant inheritance; Bruising susceptibility; Camptodactyly; Cardiomegaly; Chest pain; Coronary artery atherosclerosis; Cutis marmorata; Cystic medial necrosis of the aorta; Dental malocclusion; Descending aortic dissection; Dural ectasia; Exertional dyspnea; High palate; Hip osteoarthritis; Hypertelorism; Hypertension; Inguinal hernia; Intervertebral disc degeneration; Joint laxity; Knee osteoarthritis; Left ventricular failure; Left ventricular hypertrophy; Mitral regurgitation; Mitral valve prolapse; Osteochondritis Dissecans; Paroxysmal dyspnea; Pes planus; Protrusio acetabuli; Scoliosis; Spondylolisthesis; Striae distensae; Umbilical hernia; Uterine prolapse
TBXAS17q3499.99%gene with protein product274180Abnormal cortical bone morphology; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of immune system physiology; Abnormality of pelvic girdle bone morphology; Abnormality of the metaphysis; Abnormality of tibia morphology; Anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Bowing of the long bones; Bruising susceptibility; Craniofacial hyperostosis; Diaphyseal dysplasia; Diaphyseal thickening; Epistaxis; Hyperostosis cranialis interna; Increased bone mineral density; Myelofibrosis; Phenotypic variability; Prolonged bleeding time; Refractory anemia; Thrombocytopenia
TET24q24100%gene with protein product612839KIAA1546Abdominal pain; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Angina pectoris; Arterial thrombosis; Arthralgia; Bruising susceptibility; Chest pain; Epistaxis; Fatigue; Gingival bleeding; Headache; Hepatomegaly; Increased megakaryocyte count; Myelodysplasia; Myelofibrosis; Myocardial infarction; Paresthesia; Prolonged bleeding time; Respiratory insufficiency; Somatic mutation; Splenomegaly; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossBone Marrow Failure Syndromes
TGFB21q41100%gene with protein product190220Abnormality iris morphology; Abnormality of the sternum; Aortic dissection; Aortic regurgitation; Arachnodactyly; Arterial tortuosity; Ascending aortic dissection; Autosomal dominant inheritance; Bruising susceptibility; Cardiomegaly; Chest pain; Coronary artery atherosclerosis; Cutis marmorata; Cystic medial necrosis of the aorta; Descending aortic dissection; Dural ectasia; Exertional dyspnea; High palate; Hypertension; Inguinal hernia; Joint hyperflexibility; Left ventricular failure; Mitral valve prolapse; Paroxysmal dyspnea; Pes planus; Retrognathia; Scoliosis; Tall stature
TNXB6p21.33-p21.92.07%gene with protein productLocated in the Chr 6 MHC Region600985TNXB1, TNXB2Acrocyanosis; Ambiguous genitalia, female; Arrhythmia; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Bruising susceptibility; Constipation; Decreased nerve conduction velocity; Depressivity; Duplicated collecting system; Elbow dislocation; Fatigue; Hiatus hernia; Hip dislocation; Hyperextensible skin; Joint hyperflexibility; Joint hypermobility; Malabsorption; Migraine; Mitral valve prolapse; Muscular hypotonia; Myalgia; Nausea and vomiting; Osteoarthritis; Pes planus; Proximal muscle weakness; Recurrent urinary tract infections; Sensory neuropathy; Skeletal muscle atrophy; Sleep disturbance; Soft skin; Thin skin; Vertigo; Vesicoureteral reflux; Wormian bones
TNXB6p21.33-p21.92.07%gene with protein productLocated in the Chr 6 MHC Region600985TNXB1, TNXB2Acrocyanosis; Ambiguous genitalia, female; Arrhythmia; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Bruising susceptibility; Constipation; Decreased nerve conduction velocity; Depressivity; Duplicated collecting system; Elbow dislocation; Fatigue; Hiatus hernia; Hip dislocation; Hyperextensible skin; Joint hyperflexibility; Joint hypermobility; Malabsorption; Migraine; Mitral valve prolapse; Muscular hypotonia; Myalgia; Nausea and vomiting; Osteoarthritis; Pes planus; Proximal muscle weakness; Recurrent urinary tract infections; Sensory neuropathy; Skeletal muscle atrophy; Sleep disturbance; Soft skin; Thin skin; Vertigo; Vesicoureteral reflux; Wormian bones
USP815q21.2100%gene with protein product603158Abdominal obesity; Abnormal fear/anxiety-related behavior; Acne; Adrenal hyperplasia; Alkalosis; Anxiety; Biconcave vertebral bodies; Bruising susceptibility; Depressivity; Diabetes mellitus; Edema; Facial erythema; Failure to thrive; Fatigue; Generalized hirsutism; Glucose intolerance; Hirsutism; Hypertension; Hypokalemia; Immunodeficiency; Increased circulating ACTH level; Infertility; Kyphosis; Lipodystrophy; Menorrhagia; Metrorrhagia; Mood changes; Nephrolithiasis; Oligomenorrhea; Osteoporosis; Pituitary adenoma; Poor wound healing; Psychotic mentation; Purpura; Recurrent fractures; Round face; Skeletal muscle atrophy; Striae distensae; Thin skin; Truncal obesity; Vertebral compression fractures
USP815q21.2100%gene with protein product603158Abdominal obesity; Abnormal fear/anxiety-related behavior; Acne; Adrenal hyperplasia; Alkalosis; Anxiety; Biconcave vertebral bodies; Bruising susceptibility; Depressivity; Diabetes mellitus; Edema; Facial erythema; Failure to thrive; Fatigue; Generalized hirsutism; Glucose intolerance; Hirsutism; Hypertension; Hypokalemia; Immunodeficiency; Increased circulating ACTH level; Infertility; Kyphosis; Lipodystrophy; Menorrhagia; Metrorrhagia; Mood changes; Nephrolithiasis; Oligomenorrhea; Osteoporosis; Pituitary adenoma; Poor wound healing; Psychotic mentation; Purpura; Recurrent fractures; Round face; Skeletal muscle atrophy; Striae distensae; Thin skin; Truncal obesity; Vertebral compression fractures
VWF12p13.3198.13%gene with protein product613160F8VWFAortic valve stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gastrointestinal angiodysplasia; Gastrointestinal hemorrhage; Impaired platelet aggregation; Incomplete penetrance; Joint hemorrhage; Menorrhagia; Mitral valve prolapse; Persistent bleeding after trauma; Prolonged bleeding time; Prolonged whole-blood clotting time; Reduced factor VIII activity; Reduced von Willebrand factor activity; Thrombocytopenia; Variable expressivity
VWF12p13.3198.13%gene with protein product613160F8VWFAortic valve stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gastrointestinal angiodysplasia; Gastrointestinal hemorrhage; Impaired platelet aggregation; Incomplete penetrance; Joint hemorrhage; Menorrhagia; Mitral valve prolapse; Persistent bleeding after trauma; Prolonged bleeding time; Prolonged whole-blood clotting time; Reduced factor VIII activity; Reduced von Willebrand factor activity; Thrombocytopenia; Variable expressivity
VWF12p13.3198.13%gene with protein product613160F8VWFAortic valve stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gastrointestinal angiodysplasia; Gastrointestinal hemorrhage; Impaired platelet aggregation; Incomplete penetrance; Joint hemorrhage; Menorrhagia; Mitral valve prolapse; Persistent bleeding after trauma; Prolonged bleeding time; Prolonged whole-blood clotting time; Reduced factor VIII activity; Reduced von Willebrand factor activity; Thrombocytopenia; Variable expressivity
WASXp11.2399.19%gene with protein product300392IMD2, THC, WASPAbnormal platelet morphology; Abnormality of eosinophils; Abnormality of the musculature; Abnormality of the skin; Autoimmunity; Bruising susceptibility; Chronic diarrhea; Chronic obstructive pulmonary disease; Chronic otitis media; Congenital neutropenia; Congenital thrombocytopenia; Decreased mean platelet volume; Dyspnea; Eczema; Epistaxis; Fatigue; Fever; Hematemesis; Hematochezia; Hemolytic anemia; Immunodeficiency; Increased IgA level; Increased IgE level; Inflammation of the large intestine; Intermittent thrombocytopenia; Joint hemorrhage; Lymphopenia; Microcytic anemia; Monocytopenia; Neutropenia; Petechiae; Prolonged bleeding time; Recurrent bacterial infections; Recurrent respiratory infections; Sinusitis; Specific learning disability; Spontaneous hematomas; Thrombocytopenia; X-linked recessive inheritanceAplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
WASXp11.2399.19%gene with protein product300392IMD2, THC, WASPAbnormal platelet morphology; Abnormality of eosinophils; Abnormality of the musculature; Abnormality of the skin; Autoimmunity; Bruising susceptibility; Chronic diarrhea; Chronic obstructive pulmonary disease; Chronic otitis media; Congenital neutropenia; Congenital thrombocytopenia; Decreased mean platelet volume; Dyspnea; Eczema; Epistaxis; Fatigue; Fever; Hematemesis; Hematochezia; Hemolytic anemia; Immunodeficiency; Increased IgA level; Increased IgE level; Inflammation of the large intestine; Intermittent thrombocytopenia; Joint hemorrhage; Lymphopenia; Microcytic anemia; Monocytopenia; Neutropenia; Petechiae; Prolonged bleeding time; Recurrent bacterial infections; Recurrent respiratory infections; Sinusitis; Specific learning disability; Spontaneous hematomas; Thrombocytopenia; X-linked recessive inheritanceAplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
WIPF12q31.1100%gene with protein product602357WASPIPAbnormal platelet morphology; Abnormality of eosinophils; Autoimmunity; Autosomal recessive inheritance; Bruising susceptibility; Chronic diarrhea; Chronic obstructive pulmonary disease; Chronic otitis media; Decreased proportion of CD8-positive T cells; Dyspnea; Eczema; Fatigue; Fever; Hematemesis; Hematochezia; Hemolytic anemia; Immunodeficiency; Inflammation of the large intestine; Lymphopenia; Microcytic anemia; Petechiae; Prolonged bleeding time; Recurrent infections; Recurrent respiratory infections; Reduced natural killer cell activity; Sinusitis; Specific learning disability; Spontaneous hematomas; ThrombocytopeniaBone Marrow Failure Syndromes
ZNF46916q24.2100%gene with protein product612078Abnormality of hair pigmentation; Atypical scarring of skin; Autosomal recessive inheritance; Blue sclerae; Bruising susceptibility; Conductive hearing impairment; Congenital hip dislocation; Corneal dystrophy; Corneal scarring; Decreased corneal thickness; Dentinogenesis imperfecta; Disproportionate tall stature; Epicanthus; Gait disturbance; Hearing impairment; High myopia; Hyperextensible skin; Joint hyperflexibility; Joint laxity; Keratoconus; Keratoglobus; Macrocephaly; Mitral valve prolapse; Molluscoid pseudotumors; Myalgia; Myopia; Osteoporosis; Palmoplantar cutis laxa; Red hair; Scoliosis; Sensorineural hearing impairment; Soft skin; Spondylolisthesis; Visual loss


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome