XomeDxSlice Tool

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Abnormal eyebrow morphology

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
DSG418q12.1100%gene with protein product607892Abnormal eyebrow morphology; Abnormality of the eyelashes; Abnormality of the nail; Alopecia; Autosomal recessive inheritance; Brittle hair; Erythema; Fine hair; Follicular hyperkeratosis; Hypotrichosis; Hypotrichosis of the scalp; Patchy alopecia; Pruritus; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashesPalmoplantar keratoderma plus congenital ichthyosis
FAS10q23.31100%gene with protein product134637FAS1, APT1, TNFRSF6Abdominal pain; Abnormal blistering of the skin; Abnormal eyebrow morphology; Abnormality of the eyelashes; Acne; Antineutrophil antibody positivity; Antinuclear antibody positivity; Antiphospholipid antibody positivity; Arthralgia; Arthritis; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Cataract; Chronic noninfectious lymphadenopathy; Cognitive impairment; Confusion; Coombs-positive hemolytic anemia; Decreased lymphocyte apoptosis; Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells; Eosinophilia; Fatigue; Fever; Follicular hyperplasia; Gait disturbance; Gastrointestinal hemorrhage; Glaucoma; Hemiparesis; Hepatomegaly; Hypopigmented skin patches; Immunologic hypersensitivity; Increased IgA level; Increased IgG level; Increased IgM level; Increased proportion of HLA DR+ T cells; Iron deficiency anemia; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Platelet antibody positive; Poliosis; Premature graying of hair; Recurrent aphthous stomatitis; Reduced delayed hypersensitivity; Retinal detachment; Rheumatoid factor positive; Sensorineural hearing impairment; Short stature; Smooth muscle antibody positivity; Sparse scalp hair; Splenomegaly; Subcutaneous nodule; Urticaria; Vasculitis; Venous thrombosis; Visual impairment; VitiligoAutoimmune Disorders ; Bone Marrow Failure Syndromes
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
HSPG21p36.1299.87%gene with protein product142461SJS1Abnormal eyebrow morphology; Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of femoral epiphysis; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the metaphysis; Abnormality of the pharynx; Anisospondyly; Anterior bowing of long bones; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal recessive inheritance; Blepharophimosis; Blue sclerae; Bowing of the long bones; Calvarial skull defect; Cataract; Cleft palate; Congenital hip dislocation; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal ridge; Disproportionate short-limb short stature; Elevated aldolase level; Elevated serum creatine phosphokinase; EMG abnormality; Everted lower lip vermilion; Flat face; Flexion contracture of toe; Full cheeks; Gait disturbance; Generalized hirsutism; Genu valgum; High palate; High pitched voice; Hip contracture; Hip dysplasia; Hyperlordosis; Hypertonia; Hyporeflexia; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Joint stiffness; Kyphoscoliosis; Kyphosis; Long eyelashes in irregular rows; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Malar flattening; Malignant hyperthermia; Mask-like facies; Metaphyseal widening; Metatarsus valgus; Microcornea; Micrognathia; Micromelia; Muscle weakness; Myopathy; Myopia; Myotonia; Narrow chest; Narrow mouth; Neonatal death; Osteoporosis; Overfolded helix; Overgrowth; Pectus carinatum; Pes planus; Platyspondyly; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Pulmonary hypoplasia; Pursed lips; Respiratory insufficiency; Scoliosis; Short long bone; Short neck; Short stature; Shoulder flexion contracture; Skeletal dysplasia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Spinal rigidity; Strabismus; Talipes equinovarus; Thoracic hypoplasia; Trismus; Umbilical hernia; Visual impairment; Weak voice; Wide nasal bridge; Wrist flexion contracture
KRT8112q13.1379.71%gene with protein product602153KRTHB1Abnormal eyebrow morphology; Abnormality of metabolism/homeostasis; Abnormality of the eyelashes; Abnormality of the nail; Alopecia; Autosomal dominant inheritance; Brittle hair; Fine hair; Follicular hyperkeratosis; Heterogeneous; Hypotrichosis; Infantile onset; Nail dysplasia; Nail dystrophy; Patchy alopecia; Perifollicular hyperkeratosis; Slow-growing hair; Variable expressivity
KRT8312q13.13100%gene with protein product602765KRTHB3Abnormal eyebrow morphology; Abnormality of metabolism/homeostasis; Abnormality of the eyelashes; Abnormality of the nail; Alopecia; Autosomal dominant inheritance; Brittle hair; Erythema; Fine hair; Follicular hyperkeratosis; Heterogeneous; Hypotrichosis; Infantile onset; Nail dysplasia; Nail dystrophy; Palmoplantar keratoderma; Patchy alopecia; Perifollicular hyperkeratosis; Skin plaque; Slow-growing hair; Variable expressivity
KRT8612q1379.34%gene with protein product601928KRTHB6Abnormal eyebrow morphology; Abnormality of metabolism/homeostasis; Abnormality of the eyelashes; Abnormality of the nail; Alopecia; Autosomal dominant inheritance; Brittle hair; Fine hair; Follicular hyperkeratosis; Heterogeneous; Hypotrichosis; Infantile onset; Nail dysplasia; Nail dystrophy; Patchy alopecia; Perifollicular hyperkeratosis; Slow-growing hair; Variable expressivity
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
LTBP311q13.1100%gene with protein product602090LTBP2Abnormal eyebrow morphology; Amelogenesis imperfecta; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Bulbous nose; Decreased nerve conduction velocity; Delayed skeletal maturation; Herniation of intervertebral nuclei; Hypertrichosis; Increased bone mineral density; Intervertebral space narrowing; Long eyelashes; Long philtrum; Microdontia; Mitral valve prolapse; Narrow mouth; Narrow vertebral interpedicular distance; Oligodontia; Platyspondyly; Round face; Selective tooth agenesis; Severe short stature; Short nose; Short palm; Short stature; Small hand; Thick lower lip vermilion; Widely spaced teethEctodermal Dysplasia
PKP11q32.1100%gene with protein product601975Abnormal eyebrow morphology; Abnormality of the nail; Absent eyelashes; Alopecia; Blepharitis; Chronic diarrhea; Dry skin; Ectodermal dysplasia; Erythema; Failure to thrive; Fragile skin; Furrowed tongue; Hypotrichosis; Immunodeficiency; Palmoplantar keratoderma; Pruritus; Skin ulcer; Skin vesicleEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
PTPN221p13.299.15%gene with protein product600716PTPN8Abdominal pain; Abnormal eyebrow morphology; Abnormality of the eyelashes; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Alopecia; Anorexia; Antinuclear antibody positivity; Apraxia; Arthralgia; Arthritis; Autoimmunity; Cataract; Cerebral ischemia; Chest pain; Chewing difficulties; Chronic obstructive pulmonary disease; Cognitive impairment; Cough; Dental malocclusion; Depressivity; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glaucoma; Glomerulopathy; Granulomatosis; Headache; Hematuria; Hemoptysis; Hypopigmented skin patches; Inflammatory abnormality of the eye; Iridocyclitis; Joint dislocation; Joint stiffness; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Nausea and vomiting; Ophthalmoparesis; Papule; Periorbital edema; Poliosis; Polyarticular arthritis; Premature graying of hair; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Retinal detachment; Sensorineural hearing impairment; Short stature; Sinusitis; Skin rash; Sparse scalp hair; Vasculitis; Visual impairment; Vitiligo; Weight loss
SCARF222q11.21100%gene with protein product613619Abnormal eyebrow morphology; Arachnodactyly; Autosomal recessive inheritance; Blepharophimosis; Camptodactyly of toe; Cleft palate; Craniosynostosis; Dental crowding; Depressed nasal bridge; Dislocated radial head; Distal ulnar hypoplasia; Elbow flexion contracture; Everted lower lip vermilion; Femoral bowing; Glenoid fossa hypoplasia; Hallux valgus; High, narrow palate; Hypoplasia of the maxilla; Joint contracture of the hand; Knee flexion contracture; Laryngomalacia; Lateral clavicle hook; Long hallux; Long metacarpals; Malar flattening; Narrow foot; Narrow nose; Pectus excavatum; Protruding ear; Single umbilical artery; Slender long bone; Slender metacarpals; Stridor; Talipes equinovarus; Thin ribs; Ulnar bowing; Underdeveloped nasal alae
SLC39A48q24.3100%gene with protein product607059AEZAbnormal blistering of the skin; Abnormal eyebrow morphology; Alopecia; Alopecia of scalp; Ataxia; Autosomal recessive inheritance; Blepharitis; Cerebral cortical atrophy; Cheilitis; Chronic diarrhea; Conjunctivitis; Decreased taste sensation; Decreased testicular size; Decreased testosterone in males; Diarrhea; Dry skin; Emotional lability; Erythema; Failure to thrive; Furrowed tongue; Glossitis; Hepatomegaly; Hypogonadism; Impaired T cell function; Infantile onset; Irritability; Lethargy; Low alkaline phosphatase; Malabsorption; Paronychia; Photophobia; Poor appetite; Pustule; Recurrent candida infections; Ridged fingernail; Ridged nail; Short stature; Skin ulcer; Splenomegaly; TremorPalmoplantar keratoderma plus congenital ichthyosis
SMOC114q24.1100%gene with protein product608488Abnormal eyebrow morphology; Abnormal form of the vertebral bodies; Abnormality of the cardiovascular system; Abnormality of the hair; Abnormality of the metacarpal bones; Anophthalmia; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Blepharophimosis; Camptodactyly of 2nd-5th fingers; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Deep philtrum; Depressed nasal bridge; Downslanted palpebral fissures; Failure to thrive; Fibular hypoplasia; Finger syndactyly; Flared nostrils; Foot oligodactyly; Frontal bossing; Fused fourth and fifth metacarpals; Hand oligodactyly; High palate; Hip dislocation; Hypoplasia of the maxilla; Intellectual disability; Intellectual disability, moderate; Intellectual disability, severe; Large earlobe; Low-set ears; Low-set, posteriorly rotated ears; Microphthalmia; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Retrognathia; Sandal gap; Short nose; Short palpebral fissure; Short stature; Short tibia; Single transverse palmar crease; Synostosis of carpal bones; Talipes equinovarus; Tarsal synostosis; Tibial bowing; Toe syndactyly; True anophthalmia
SOX1022q13.199.98%gene with protein product602229Abdominal pain; Abnormal eyebrow morphology; Abnormal macular morphology; Abnormal pyramidal signs; Abnormality of the voice; Abnormality of vision; Absent brainstem auditory responses; Aganglionic megacolon; Alacrima; Anosmia; Anterior hypopituitarism; Aplasia of the semicircular canal; Areflexia; Ataxia; Autonomic dysregulation; Autosomal dominant inheritance; Blue irides; Breast hypoplasia; Cafe-au-lait spot; Cerebral dysmyelination; Cerebral hypomyelination; Constipation; Cryptorchidism; Decreased fertility; Decreased lacrimation; Decreased nerve conduction velocity; Decreased testicular size; Delayed puberty; Demyelinating peripheral neuropathy; Dilated vestibule of the inner ear; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysmyelinating leukodystrophy; Erectile abnormalities; Global developmental delay; Hearing impairment; Heterochromia iridis; Heterogeneous; Hypertonia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypopigmentation of hair; Hypopigmentation of the fundus; Hypopigmented skin patches; Hypoplasia of the iris; Hypoplasia of the semicircular canal; Hyporeflexia; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Ileus; Intellectual disability; Intestinal obstruction; Long-segment aganglionic megacolon; Microcolon; Micropenis; Muscular hypotonia; Muscular hypotonia of the trunk; Myelin outfoldings; Neonatal hypotonia; Nystagmus; Olfactory lobe agenesis; Pectus excavatum; Peripheral demyelination; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Phenotypic variability; Premature graying of hair; Prominent nasal bridge; Reduced bone mineral density; Seizures; Sensorineural hearing impairment; Spastic paraparesis; Spastic tetraplegia; Spasticity; Synophrys; Telecanthus; Underdeveloped nasal alae; White eyebrow; White eyelashes; White forelock; Wide nasal bridgeWaardenburg Syndrome
XYLT217q21.33100%gene with protein product608125Abnormal eyebrow morphology; Abnormality of the intervertebral disk; Amblyopia; Aplasia/Hypoplasia of the lens; Atrial septal defect; Autosomal recessive inheritance; Cataract; Disproportionate short-trunk short stature; Facial hypotonia; Hypertelorism; Iris hypopigmentation; Long fingers; Long toe; Low posterior hairline; Low-set ears; Microphthalmia; Mitral valve prolapse; Muscle weakness; Nystagmus; Osteopenia; Osteoporosis; Pes planus; Platyspondyly; Posteriorly rotated ears; Retinal detachment; Sensorineural hearing impairment; Shield chest; Short neck; Thoracic kyphosis; Ventricular septal defect; Vertebral compression fractures; Visual loss; Webbed neck


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