XomeDxSlice Tool

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

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Phenotypes
Hyperpigmentation of the skin

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AAAS12q13.13100%gene with protein product605378Abnormality of visual evoked potentials; Achalasia; Adrenal insufficiency; Adrenocorticotropin receptor defect; Alacrima; Anisocoria; Ataxia; Autosomal recessive inheritance; Babinski sign; Childhood onset; Decreased circulating aldosterone level; Decreased circulating cortisol level; Dysarthria; Dysautonomia; Generalized hyperpigmentation; Global developmental delay; Hyperpigmentation of the skin; Hyperreflexia; Intellectual disability; Microcephaly; Motor axonal neuropathy; Muscle weakness; Optic atrophy; Orthostatic hypotension; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Progressive; Seizures; Short stature; Visual impairment
ABCD1Xq28100%gene with protein product300371ALDAbnormality of the cerebral white matter; Abnormality of the skeletal system; Attention deficit hyperactivity disorder; Blindness; Bowel incontinence; Bulbar palsy; Dementia; Elevated long chain fatty acids; Hearing impairment; Hyperpigmentation of the skin; Hypogonadism; Impotence; Incoordination; Limb ataxia; Loss of speech; Neurodegeneration; Paraparesis; Polyneuropathy; Primary adrenal insufficiency; Progressive; Psychosis; Seizures; Slurred speech; Spastic paraplegia; Truncal ataxia; Urinary bladder sphincter dysfunction; Urinary incontinence; Visual loss; X-linked recessive inheritance
ANTXR24q21.21100%gene with protein product608041Abnormal diaphysis morphology; Abnormality of dental morphology; Abnormality of the adrenal glands; Abnormality of the hair; Abnormality of the skull; Aplasia/Hypoplasia of the skin; Aplasia/Hypoplasia of the thymus; Autosomal recessive inheritance; Brachydactyly; Camptodactyly of finger; Chronic diarrhea; Coarse facial features; Death in infancy; Diarrhea; Failure to thrive; Feeding difficulties; Gingival fibromatosis; Gingival overgrowth; Hyperpigmentation of the skin; Immunodeficiency; Joint stiffness; Lymphedema; Macrocephaly; Micromelia; Muscular hypotonia; Osteolysis; Osteomalacia; Osteopenia; Osteoporosis; Papule; Polycystic ovaries; Progressive; Progressive flexion contractures; Recurrent bacterial infections; Recurrent fractures; Recurrent infections; Severe short stature; Short neck; Short palm; Skin ulcer; Steatorrhea; Subcutaneous nodule; Telangiectasia of the skin; Thickened skin; Urticaria; Variable expressivity
APC5q22.2100%gene with protein productPromoter/regulatory variants are not captured by XomeDxSlice. Please see our oncology genetics test menu for additional options: https://www.genedx.com/test-catalog/medical-specialty/oncology/611731Abdominal pain; Abnormality of retinal pigmentation; Abnormality of the abdominal wall; Abnormality of the metacarpal bones; Abnormality of the musculature; Absent fingernail; Absent toenail; Adenomatous colonic polyposis; Adrenocortical carcinoma; Astrocytoma; Autosomal dominant inheritance; Colon cancer; Desmoid tumors; Downslanted palpebral fissures; Epidermoid cyst; Finger syndactyly; Frontal bossing; Hepatocellular carcinoma; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; Hyperpigmentation of the skin; Hypertelorism; Hypoplasia of the radius; Hypoplasia of the ulna; Increased level of L-fucose in urine; Intestinal polyposis; Keloids; Malabsorption; Micronodular cirrhosis; Multiple gastric polyps; Multiple lipomas; Myalgia; Neoplasm of the stomach; Odontoma; Radioulnar synostosis; Renal cell carcinoma; Short thumb; Small intestine carcinoid; Somatic mutation; Stomach cancer; Subacute progressive viral hepatitis; Subcutaneous nodule; Synostosis of carpal bones; Toe syndactyly; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Variable expressivity
COX7BXq21.1100%gene with protein product300885Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal morphology of the nasolacrimal system; Abnormality of retinal pigmentation; Abnormality of the eyelashes; Anophthalmia; Aplasia cutis congenita; Arrhythmia; Congenital diaphragmatic hernia; Dermal atrophy; Dilated cardiomyopathy; Erythema; Global developmental delay; Hyperpigmentation of the skin; Hypertelorism; Hypertrophic cardiomyopathy; Hypopigmented skin patches; Mandibular aplasia; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Retrognathia; Sclerocornea; Severe short stature; Short chin; Short stature; Vitritis; Wide nasal bridge; Wide nose; X-linked dominant inheritance
CYP11A115q24.1100%gene with protein product118485CYP11AAbnormal urine potassium concentration; Abnormality of cholesterol metabolism; Abnormality of the Leydig cells; Absence of secondary sex characteristics; Acidosis; Adrenal hypoplasia; Adrenal insufficiency; Adrenocorticotropic hormone excess; Agenesis of corpus callosum; Ambiguous genitalia, male; Aplasia of the uterus; Cryptorchidism; Decreased circulating aldosterone level; Decreased circulating androgen level; Decreased circulating cortisol level; Decreased fertility; Decreased testicular size; Dehydration; Delayed puberty; Delayed skeletal maturation; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Failure to thrive; Feeding difficulties; Female external genitalia in individual with 46,XY karyotype; Generalized bronze hyperpigmentation; Gynecomastia; Hyperaldosteronism; Hyperkalemia; Hypernatriuria; Hyperpigmentation of the skin; Hyponatremia; Hypotension; Hypovolemia; Increased circulating ACTH level; Increased circulating renin level; Induced vaginal delivery; Low maternal serum estriol; Male pseudohermaphroditism; Neonatal hypoglycemia; Osteoporosis; Premature birth; Renal salt wasting; Sex reversal; Urogenital sinus anomaly; VomitingDisorders of Sex Development
CYP11B18q24.3100%gene with protein product610613CYP11BAbnormal circulating aldosterone; Abnormal circulating renin; Abnormal EKG; Abnormality of hair growth rate; Abnormality of prenatal development or birth; Abnormality of the menstrual cycle; Abnormality of the urinary system; Accelerated bone age after puberty; Accelerated skeletal maturation; Adrenal hyperplasia; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia, female; Aortic root aneurysm; Autosomal dominant inheritance; Autosomal recessive inheritance; Clitoral hypertrophy; Congenital adrenal hyperplasia; Decreased circulating aldosterone level; Decreased circulating cortisol level; Decreased circulating renin level; Decreased fertility in females; Decreased fertility in males; Decreased testicular size; Delayed skeletal maturation; Dexamethasone-suppresible primary hyperaldosteronism; Ectopic adrenal gland; Enlarged polycystic ovaries; Female sexual dysfunction; Fused labia minora; Generalized hyperpigmentation; Hirsutism; Hyperaldosteronism; Hyperpigmentation of the skin; Hyperpigmented genitalia; Hypertension; Hypervolemia; Hypokalemia; Hypoplasia of the uterus; Hypoplasia of the vagina; Increased circulating ACTH level; Increased circulating androgen level; Long penis; Neonatal onset; Onset; Osteoporosis; Precocious puberty in males; Premature adrenarche; Renal salt wasting; Short stature; Tall stature; Urogenital sinus anomalyDisorders of Sex Development
DKC1Xq2899.99%gene with protein product300126DKCAbnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Acute myeloid leukemia; Alopecia; Anal mucosal leukoplakia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Blepharitis; Bone marrow hypocellularity; Carious teeth; Cataract; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Cirrhosis; Conjunctivitis; Cryptorchidism; Decreased testicular size; Dermal atrophy; Epiphora; Esophageal stenosis; Esophageal stricture; Excessive wrinkled skin; Failure to thrive; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Hodgkin lymphoma; Horseshoe kidney; Hyperhidrosis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypertonia; Hypodontia; Hypopigmented skin patches; Hypospadias; Immunodeficiency; Intellectual disability; Intrauterine growth retardation; Leukopenia; Malabsorption; Microcephaly; Myelodysplasia; Nail dystrophy; Optic atrophy; Oral leukoplakia; Osteoporosis; Pancytopenia; Periodontitis; Phimosis; Premature graying of hair; Premature loss of teeth; Pterygium of nails; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Restrictive ventilatory defect; Reticulated skin pigmentation; Ridged nail; Rough bone trabeculation; Short stature; Skin ulcer; Sparse eyelashes; Sparse hair; Sparse scalp hair; Split nail; Squamous cell carcinoma; Strabismus; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; Ventriculomegaly; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Ectodermal Dysplasia ; Inflammatory Bowel Disease
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
GJB613q12.11100%gene with protein product604418DFNA3, ED2Abnormality of nail color; Abnormality of the dentition; Abnormality of the eyelashes; Absent axillary hair; Absent pubic hair; Adult onset sensorineural hearing impairment; Alopecia; Alopecia totalis; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Brittle hair; Cataract; Conductive hearing impairment; Conjunctivitis; Corneal neovascularization; Digenic inheritance; Dilatated internal auditory canal; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Erythema; Fine hair; Fragile nails; Furrowed tongue; Generalized hyperkeratosis; Generalized hyperpigmentation; Hearing impairment; Hyperconvex nail; Hyperpigmentation of the skin; Hypohidrosis; Hypoplastic fingernail; Hypoplastic toenails; Hypotrichosis; Ichthyosis; Irregular hyperpigmentation; Keratitis; Macule; Nail dysplasia; Nail dystrophy; Onycholysis; Oral leukoplakia; Osteolysis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Photophobia; Progressive sensorineural hearing impairment; Recurrent bacterial skin infections; Sensorineural hearing impairment; Short stature; Skin ulcer; Slow-growing hair; Small nail; Sparse and thin eyebrow; Sparse axillary hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Stapes ankylosis; Strabismus; Thick nail; Variable expressivity; Visual impairment; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
HCCSXp22.2100%gene with protein product300056MLSAbnormal cardiac septum morphology; Abnormal facial shape; Abnormal morphology of the nasolacrimal system; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the eyelashes; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Anteriorly placed anus; Arrhythmia; Asymmetric, linear skin defects; Atrial septal defect; Cataract; Chordee; Clitoral hypertrophy; Colpocephaly; Congenital diaphragmatic hernia; Dermal atrophy; Dilated cardiomyopathy; Erythema; Hearing impairment; Histiocytoid cardiomyopathy; Hydrocephalus; Hyperpigmentation of the skin; Hypertrophic cardiomyopathy; Hypopigmented skin patches; Hypoplasia of the uterus; Hypospadias; Iris coloboma; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Overriding aorta; Ovotestis; Pigmentary retinopathy; Retrognathia; Sclerocornea; Seizures; Severe short stature; Short stature; Ventricular septal defect; Vitritis; Wide nasal bridge; Wide nose; X-linked dominant inheritanceDisorders of Sex Development
HFE6p22.2100%gene with protein product613609Abdominal pain; Abnormal glucose tolerance; Abnormality of the hypothalamus-pituitary axis; Alopecia; Amenorrhea; Arrhythmia; Arthralgia; Arthropathy; Ascites; Autosomal recessive inheritance; Azoospermia; Cardiomegaly; Cardiomyopathy; Chondrocalcinosis; Cirrhosis; Congestive heart failure; Diabetes mellitus; Elevated hepatic transaminases; Fatigue; Gynecomastia; Hepatic steatosis; Hepatocellular carcinoma; Hepatomegaly; Hyperpigmentation of the skin; Hypogonadism; Hypogonadotrophic hypogonadism; Impotence; Increased serum ferritin; Increased serum iron; Joint dislocation; Limitation of joint mobility; Osteoporosis; Pleural effusion; Splenomegaly; Telangiectasia; Testicular atrophy
HFE6p22.2100%gene with protein product613609Abdominal pain; Abnormal glucose tolerance; Abnormality of the hypothalamus-pituitary axis; Alopecia; Amenorrhea; Arrhythmia; Arthralgia; Arthropathy; Ascites; Autosomal recessive inheritance; Azoospermia; Cardiomegaly; Cardiomyopathy; Chondrocalcinosis; Cirrhosis; Congestive heart failure; Diabetes mellitus; Elevated hepatic transaminases; Fatigue; Gynecomastia; Hepatic steatosis; Hepatocellular carcinoma; Hepatomegaly; Hyperpigmentation of the skin; Hypogonadism; Hypogonadotrophic hypogonadism; Impotence; Increased serum ferritin; Increased serum iron; Joint dislocation; Limitation of joint mobility; Osteoporosis; Pleural effusion; Splenomegaly; Telangiectasia; Testicular atrophy
HJV1q21.1100%gene with protein product608374HFE2Amenorrhea; Arrhythmia; Arthritis; Arthropathy; Autosomal recessive inheritance; Azoospermia; Congenital hepatic fibrosis; Congestive heart failure; Diabetes mellitus; Dilated cardiomyopathy; Elevated hepatic transaminases; Elevated transferrin saturation; Generalized hyperpigmentation; Hyperpigmentation of the skin; Hypogonadism; Impotence; Increased serum ferritin; Infertility; Lethargy; Muscle weakness; Splenomegaly; Young adult onset
HMGA212q14.399.78%gene with protein product600698HMGICAutosomal dominant inheritance; Delayed speech and language development; Failure to thrive; Global developmental delay; Hyperpigmentation of the skin; Hypertelorism; Intellectual disability, mild; Intrauterine growth retardation; Osteopoikilosis; Short stature; Somatic mutation; Specific learning disability; Subcutaneous nodule; Tremor; Uterine leiomyoma
HRAS11p15.5100%gene with protein product190020HRAS1Abnormal dermatoglyphics; Abnormality of dental color; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of finger; Abnormality of the fingernails; Abnormality of toe; Abnormality of vision; Acanthosis nigricans; Achilles tendon contracture; Adenoma sebaceum; Alopecia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Arnold-Chiari type I malformation; Arrhythmia; Asymmetric growth; Atrial septal defect; Autosomal dominant inheritance; Barrel-shaped chest; Basal cell carcinoma; Biparietal narrowing; Bladder carcinoma; Bronchomalacia; Cavernous hemangioma; Cerebral atrophy; Cerebral cortical atrophy; Coarctation of aorta; Coarse facial features; Coloboma; Concave nail; Cranial asymmetry; Cryptorchidism; Curly hair; Deep palmar crease; Deep plantar creases; Deep-set nails; Delayed skeletal maturation; Depressed nasal bridge; Downslanted palpebral fissures; EEG abnormality; Enlarged cerebellum; Epicanthus; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fragile nails; Frontal bossing; Full cheeks; Gastroesophageal reflux; Genu recurvatum; Global developmental delay; Hemangioma; Hemimegalencephaly; High palate; Hoarse voice; Horseshoe kidney; Hydrocephalus; Hyperextensibility of the finger joints; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypertelorism; Hypertrophic cardiomyopathy; Hypoglycemia; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplastic toenails; Ichthyosis; Intellectual disability; Iris coloboma; Irregular hyperpigmentation; Joint hyperflexibility; Keratoconus; Kyphoscoliosis; Lack of skin elasticity; Limited elbow movement; Low-set ears; Macrocephaly; Macroglossia; Melanocytic nevus; Micrognathia; Microphthalmia; Mitral valve prolapse; Muscular hypotonia; Narrow palate; Nevus; Nevus sebaceous; Obstructive sleep apnea; Osteopenia; Overgrowth; Papilloma; Pectus carinatum; Plagiocephaly; Pneumothorax; Pointed chin; Polyhydramnios; Poor suck; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Ptosis; Pulmonic stenosis; Pyloric stenosis; Recurrent fractures; Reduced tendon reflexes; Redundant neck skin; Redundant skin; Respiratory failure; Rhabdomyosarcoma; Seizures; Short neck; Short stature; Somatic mosaicism; Sparse hair; Sporadic; Strabismus; Sudden death; Talipes equinovarus; Telecanthus; Thick lower lip vermilion; Thickened Achilles tendon; Thickened nuchal skin fold; Thin nail; Tracheomalacia; Ulnar deviation of finger; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Vestibular Schwannoma; Webbed neck; Wide anterior fontanel; Woolly hair
IL12A3q25.3399.97%gene with protein product161560NKSF1Abdominal pain; Abnormal blistering of the skin; Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Acne; Antinuclear antibody positivity; Arthralgia; Arthritis; Biliary cirrhosis; Cirrhosis; Confusion; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Immunologic hypersensitivity; Increased IgM level; Jaundice; Meningitis; Migraine; Myalgia; Nausea and vomiting; Onychomycosis; Oral ulcer; Orchitis; Orthostatic hypotension; Papule; Photophobia; Portal hypertension; Pruritus; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
IL12RB119p13.1199.59%gene with protein product601604IL12RBAbnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Autosomal recessive inheritance; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Immunodeficiency; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus; Recurrent mycobacterial infections
IRF57q32.1100%gene with protein product607218Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Arthralgia; Arthritis; Autoimmunity; Biliary cirrhosis; Carious teeth; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Dyspareunia; Dysphagia; Dyspnea; Elevated alkaline phosphatase; Flexion contracture; Gastroesophageal reflux; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Hypopigmented skin patches; Increased IgM level; Jaundice; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Onychomycosis; Orthostatic hypotension; Osteolysis; Portal hypertension; Pruritus; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
KIT4q1299.96%gene with protein product164920PBTAbnormal blistering of the skin; Abnormality of metabolism/homeostasis; Abnormality of the ear; Absent pigmentation of the ventral chest; Acute myeloid leukemia; Aganglionic megacolon; Autosomal dominant inheritance; Chronic myelogenous leukemia; Chronic myelomonocytic leukemia; Constipation; Cryptorchidism; Cutaneous mastocytosis; Dysphagia; Eosinophilia; Erythema; Erythroderma; Fatigue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Gonadal dysgenesis; Heterochromia iridis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypopigmented skin patches; Intestinal obstruction; Large hands; Macule; Mastocytosis; Myelodysplasia; Nausea and vomiting; Neoplasm; Neoplasm of the stomach; Neurofibromas; Partial albinism; Piebaldism; Profuse pigmented skin lesions; Pruritus; Sarcoma; Somatic mutation; Sporadic; Subcutaneous nodule; Telangiectasia macularis eruptiva perstans; Teratoma; Thickened skin; Urticaria; White eyebrow; White eyelashes; White forelockBone Marrow Failure Syndromes ; Waardenburg Syndrome
LEMD312q14.399.93%gene with protein product607844Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Autosomal dominant inheritance; Bone pain; Complete duplication of the distal phalanges of the hand; Connective tissue nevi; Delayed speech and language development; Ectopic kidney; Failure to thrive; Flat occiput; Flexion contracture; Generalized hypopigmentation; Generalized osteosclerosis; Global developmental delay; Hoarse voice; Hyperostosis; Hyperpigmentation of the skin; Hypertelorism; Increased bone mineral density; Intellectual disability, mild; Intrauterine growth retardation; Joint stiffness; Microcephaly; Nevus; Osteopoikilosis; Papule; Progressive; Scleroderma; Short stature; Skeletal dysplasia; Specific learning disability; Sporadic; Subcutaneous nodule; Tremor
MC2R18p11.2100%gene with protein product607397Accelerated skeletal maturation; Autosomal recessive inheritance; Coma; Decreased circulating cortisol level; Failure to thrive; Hyperpigmentation of the skin; Increased circulating ACTH level; Recurrent hypoglycemia; Recurrent infections; Seizures; Tall stature
MMEL11p36.32100%gene with protein productMMEL2Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus
MRAP21q22.11100%gene with protein product609196C21orf61Autosomal recessive inheritance; Decreased circulating cortisol level; Hyperpigmentation of the skin; Increased circulating ACTH level; Recurrent hypoglycemia
NDUFB11Xp11.399.85%gene with protein product300403Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal morphology of the nasolacrimal system; Abnormality of retinal pigmentation; Abnormality of the eyelashes; Agenesis of corpus callosum; Anophthalmia; Arrhythmia; Cardiac arrest; Congenital diaphragmatic hernia; Dermal atrophy; Dilated cardiomyopathy; Dilation of lateral ventricles; Erythema; Failure to thrive; Hyperpigmentation of the skin; Hypertrophic cardiomyopathy; Hypopigmented skin patches; Lacrimal duct atresia; Mandibular aplasia; Micrognathia; Microphthalmia; Midface retrusion; Muscular hypotonia of the trunk; Myopia; Nystagmus; Retrognathia; Sclerocornea; Seizures; Severe short stature; Strabismus; Ventricular fibrillation; Ventricular tachycardia; Vitritis; Wide nasal bridge; Wide nose; X-linked dominant inheritance
NHP25q35.3100%gene with protein product606470NOLA2Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Autosomal recessive inheritance; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Cirrhosis; Epiphora; Esophageal stenosis; Esophageal stricture; Global developmental delay; Growth delay; Hepatic fibrosis; Hyperhidrosis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypodontia; Hypopigmented skin patches; Intellectual disability; Intrauterine growth retardation; Malabsorption; Microcephaly; Microdontia; Nail dysplasia; Nail dystrophy; Nasolacrimal duct obstruction; Oral leukoplakia; Osteoporosis; Pancytopenia; Periodontitis; Phenotypic variability; Pterygium of nails; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Reticulated skin pigmentation; Rough bone trabeculation; Short stature; Skin ulcer; Small nail; Sparse eyelashes; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Testicular atrophy; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosisAplastic Anemia ; Bone Marrow Failure Syndromes
NOD216q12.1100%gene with protein product605956IBD1, CARD15Abnormality of the cranial nerves; Abnormality of the ear; Arthralgia; Arthritis; Autosomal dominant inheritance; Band keratopathy; Camptodactyly of finger; Cataract; Cystoid macular edema; Dry skin; Eczema; Erythema; Erythema nodosum; Fever; Flexion contracture of toe; Glaucoma; Hyperpigmentation of the skin; Intermittent generalized erythematous papular rash; Iridocyclitis; Iritis; Joint swelling; Keratitis; Limitation of joint mobility; Nongranulomatous uveitis; Papule; Photophobia; Polyarticular arthritis; Posterior uveitis; Skin rash; Skin ulcer; Synovitis; Tendonitis; UveitisInflammatory Bowel Disease ; Primary Immunodeficiency
NOP1015q14100%gene with protein product606471NOLA3Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Autosomal recessive inheritance; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Epiphora; Esophageal stenosis; Esophageal stricture; Global developmental delay; Hepatic fibrosis; Hyperhidrosis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypodontia; Hypopigmented skin patches; Intellectual disability; Intrauterine growth retardation; Malabsorption; Microcephaly; Microdontia; Nail dysplasia; Nail dystrophy; Nasolacrimal duct obstruction; Oral leukoplakia; Osteoporosis; Periodontitis; Phenotypic variability; Pterygium of nails; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Rough bone trabeculation; Short stature; Skin ulcer; Small nail; Sparse eyelashes; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosisAplastic Anemia ; Bone Marrow Failure Syndromes
NR0B1Xp21.299.98%gene with protein product300473AHC, DSSAbnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Absence of pubertal development; Adrenal hypoplasia; Ambiguous genitalia; Autosomal recessive inheritance; Azoospermia; Clitoral hypertrophy; Cryptorchidism; Decreased circulating aldosterone level; Decreased circulating cortisol level; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Dehydration; Delayed puberty; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Failure to thrive; Female external genitalia in individual with 46,XY karyotype; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hyperpigmentation of the skin; Hypogonadotrophic hypogonadism; Hyponatremia; Hypoplasia of the vagina; Hypospadias; Male hypogonadism; Male infertility; Male pseudohermaphroditism; Micropenis; Muscular dystrophy; Oligospermia; Osteoporosis; Polycystic ovaries; Precocious puberty; Primary amenorrhea; Renal salt wasting; Sex reversal; Sparse axillary hair; Sparse pubic hair; Streak ovary; Testicular dysgenesis; Urogenital sinus anomaly; Vanishing testis; X-linked inheritance; X-linked recessive inheritanceDisorders of Sex Development
PANK220p13100%gene with protein product606157C20orf48, NBIA1Abnormal pyramidal signs; Abnormality of the foot; Acanthocytosis; Akinesia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Blepharospasm; Bradykinesia; Cerebral degeneration; Choreoathetosis; Decreased circulating low-density lipoprotein levels; Decreased muscle mass; Dementia; Depressivity; Dysarthria; Dysphagia; Dysphonia; Dystonia; Eye of the tiger anomaly of globus pallidus; Eyelid apraxia; Facial grimacing; Feeding difficulties in infancy; Gait disturbance; Global brain atrophy; Global developmental delay; Hyperactivity; Hyperpigmentation of the skin; Juvenile onset; Motor tics; Myopathy; Neurodegeneration; Obsessive-compulsive trait; Optic atrophy; Orofacial dyskinesia; Pallidal degeneration; Parkinsonism; Pigmentary retinopathy; Rapidly progressive; Retinal degeneration; Rigidity; Rod-cone dystrophy; Slow progression; Spasticity; Tremor; Urinary incontinence
PDGFRA4q1299.88%gene with protein product173490Abnormality of the nervous system; Autosomal dominant inheritance; Constipation; Dysphagia; Endocardial fibrosis; Eosinophilia; Fatigue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Hepatomegaly; Hyperpigmentation of the skin; Intestinal obstruction; Large hands; Myalgia; Myeloproliferative disorder; Nausea and vomiting; Neoplasm of the stomach; Neurofibromas; Pruritus; Pulmonary infiltrates; Restrictive cardiomyopathy; Sarcoma; Somatic mutation; Splenomegaly; Sporadic; Urticaria; Venous thrombosis
POU2AF111q23.1100%gene with protein product601206Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus
PSMB86p21.3299.84%gene with protein product177046LMP7Abnormality of the Leydig cells; Abnormally large globe; Adipose tissue loss; Arthralgia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Basal ganglia calcification; Bone pain; Camptodactyly of finger; Cardiomegaly; Clubbing of fingers; Clubbing of toes; Congestive heart failure; Conjunctivitis; Elbow flexion contracture; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Episcleritis; Episodic fever; Erythema; Erythema nodosum; Failure to thrive; Finger swelling; Flexion contracture of toe; Hepatomegaly; Hyperhidrosis; Hyperostosis; Hyperpigmentation of the skin; Hypertriglyceridemia; Increased antibody level in blood; Intellectual disability, mild; Joint stiffness; Lipoatrophy; Lipodystrophy; Long fingers; Lymphadenopathy; Macroglossia; Macrotia; Microcytic anemia; Muscle weakness; Osteopenia; Panniculitis; Prominent nose; Skeletal muscle atrophy; Skin rash; Splenomegaly; Subcutaneous nodule; Thick lower lip vermilion
RBM287q32.199.92%gene with protein product612074Alopecia; Autosomal recessive inheritance; Carious teeth; Central adrenal insufficiency; Delayed puberty; Flexion contracture; Gynecomastia; Hyperpigmentation of the skin; Hypodontia; Hypogonadism; Intellectual disability; Kyphoscoliosis; Melanocytic nevus; Microcephaly; Motor deterioration; Reduced subcutaneous adipose tissue; Skeletal muscle atrophy; Ulnar deviation of the hand; Upper motor neuron dysfunction
SDHB1p36.13100%gene with protein product185470SDH1, SDHAbdominal pain; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Cafe-au-lait spot; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Congenital cataract; Congestive heart failure; Conjunctival hamartoma; Constipation; Cranial nerve paralysis; Dysphagia; Dysphonia; Elevated urinary catecholamines; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Endometrial carcinoma; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Goiter; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hypercalcemia; Hyperhidrosis; Hyperpigmentation of the skin; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Incomplete penetrance; Intellectual disability; Intestinal obstruction; Large hands; Lipoma; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Nausea; Nausea and vomiting; Neoplasm; Neoplasm of the gastrointestinal tract; Neoplasm of the stomach; Neurofibromas; Palmoplantar keratoderma; Palpitations; Papillary thyroid carcinoma; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Pheochromocytoma; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal artery stenosis; Renal cell carcinoma; Sarcoma; Sinus tachycardia; Sporadic; Subcutaneous nodule; Tachycardia; Tinnitus; Urticaria; Uterine leiomyoma; Weight loss
SDHC1q23.3100%gene with protein product602413PGL3Abdominal pain; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Conjunctival hamartoma; Constipation; Cranial nerve paralysis; Dysphagia; Dysphonia; Elevated circulating catecholamine level; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Goiter; Hamartomatous polyposis; Hearing impairment; Hoarse voice; Hypercalcemia; Hyperhidrosis; Hyperpigmentation of the skin; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Intellectual disability; Intestinal obstruction; Large hands; Lipoma; Loss of voice; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Nausea; Nausea and vomiting; Neoplasm of the gastrointestinal tract; Neoplasm of the stomach; Neurofibromas; Palmoplantar keratoderma; Palpitations; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Sarcoma; Sinus tachycardia; Sporadic; Subcutaneous nodule; Tachycardia; Tinnitus; Urticaria; Vocal cord paralysis; Weight loss
SEC23A14q21.1100%gene with protein product610511Anteverted nares; Autosomal recessive inheritance; Brittle hair; Capillary hemangiomas; Carious teeth; Coarse hair; Cryptorchidism; Decreased skull ossification; Delayed closure of the anterior fontanelle; Delayed eruption of teeth; Forehead hyperpigmentation; Frontal bossing; High iliac wings; Hyperpigmentation of the skin; Hypertelorism; Hypoplasia of teeth; Hypoplasia of the maxilla; Joint laxity; Large fontanelles; Long philtrum; Macrocephaly; Malar flattening; Microdontia; Midface retrusion; Narrow chest; Narrow iliac wings; Pes planus; Posterior wedging of vertebral bodies; Posterior Y-sutural cataract; Premature loss of teeth; Prominent nasal bridge; Prominent supraorbital ridges; Punctate cataract; Scoliosis; Short stature; Skeletal dysplasia; Smooth philtrum; Sparse hair; Sutural cataract; Thin upper lip vermilion; Thin vermilion border; Wide anterior fontanel; Wide mouth; Wide nasal bridge; Wide nose
SLC29A310q22.199.86%gene with protein product612373Abnormality of dental enamel; Abnormality of the cranial nerves; Abnormality of the metaphysis; Aplasia/Hypoplasia of the skin; Autosomal recessive inheritance; Camptodactyly; Cerebral calcification; Cervical lymphadenopathy; Clinodactyly; Craniofacial hyperostosis; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Developmental regression; Diabetes mellitus; Elbow flexion contracture; Episcleritis; Fever; Growth hormone deficiency; Hallux valgus; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Histiocytosis; Hypergonadotropic hypogonadism; Hyperpigmentation of the skin; Hypertelorism; Hypertrichosis; Hypoplastic vertebral bodies; Increased bone mineral density; Intellectual disability; Irregular vertebral endplates; Lymphadenopathy; Macrocephaly; Nystagmus; Optic atrophy; Phenotypic variability; Platyspondyly; Proptosis; Recurrent fractures; Rough bone trabeculation; Scleroderma; Sensorineural hearing impairment; Short stature; Splenomegaly; Stiff skin; Ventricular septal defect
SPIB19q13.33100%gene with protein product606802Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus
TFR27q22.1100%gene with protein product604720Amenorrhea; Anemia; Arthritis; Autosomal recessive inheritance; Cardiomyopathy; Cirrhosis; Elevated hepatic transaminases; Fatigue; Hyperpigmentation of the skin; Hypogonadotrophic hypogonadism; Impotence; Increased serum ferritin; Increased serum iron; Lymphopenia; Neutropenia
TNFSF159q32100%gene with protein product604052Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus
TNPO37q32.1100%gene with protein product610032LGMD1FAbnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; PruritusRhabdomyolysis
TP633q28100%gene with protein product603273TP73L, TP53L, TP53CP2-3 toe syndactyly; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the anus; Abnormality of the clitoris; Abnormality of the nasopharynx; Abnormality of the nervous system; Absence of Stensen duct; Absent eyelashes; Absent lacrimal punctum; Absent nipple; Adermatoglyphia; Alopecia; Alopecia of scalp; Anhidrosis; Anhidrotic ectodermal dysplasia; Ankyloblepharon; Anonychia; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the phalanges of the toes; Aplasia/Hypoplasia of the skin; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Bladder diverticulum; Bladder exstrophy; Blepharitis; Blepharophimosis; Blue irides; Breast hypoplasia; Camptodactyly; Carious teeth; Central diabetes insipidus; Choanal atresia; Cleft palate; Cleft upper lip; Coarse hair; Conductive hearing impairment; Conical tooth; Conjunctivitis; Corneal erosion; Cryptorchidism; Cutaneous photosensitivity; Dacryocystitis; Decreased number of sweat glands; Depressed nasal bridge; Depressed nasal tip; Dermal atrophy; Dry skin; Duplicated collecting system; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Ectrodactyly; Eczema; Epispadias; Fair hair; Fine hair; Finger syndactyly; Fingernail dysplasia; Freckling; Generalized hyperpigmentation; Generalized hypopigmentation; Growth hormone deficiency; Hallux valgus; Hearing impairment; High forehead; Hydronephrosis; Hydroureter; Hyperconvex fingernails; Hyperconvex nail; Hyperkeratosis; Hyperpigmentation of the skin; Hypodontia; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Hypotrichosis; Inguinal hernia; Joint contracture of the hand; Keratitis; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Melanocytic nevus; Microdontia; Micrognathia; Micropenis; Microtia; Nail dysplasia; Nail dystrophy; Nail pits; Narrow mouth; Narrow nose; Nasolacrimal duct obstruction; Non-midline cleft lip; Oligodactyly; Oligodontia; Oral cleft; Oval face; Palmoplantar keratoderma; Patchy alopecia; Patent ductus arteriosus; Phenotypic variability; Photophobia; Pili canaliculi; Premature loss of permanent teeth; Progressive alopecia; Ptosis; Recurrent otitis media; Recurrent urinary tract infections; Reduced number of teeth; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Selective tooth agenesis; Short stature; Skin ulcer; Slow-growing hair; Small nail; Small, conical teeth; Sparse and thin eyebrow; Sparse axillary hair; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Split foot; Split hand; Submucous cleft hard palate; Submucous cleft soft palate; Supernumerary nipple; Syndactyly; Taurodontia; Thick eyebrow; Thick nail; Thin skin; Toe syndactyly; Toenail dysplasia; Transverse vaginal septum; Triphalangeal thumb; Umbilical hernia; Underdeveloped nasal alae; Ureterocele; Urethral atresia; Vaginal dryness; Velopharyngeal insufficiency; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge; Widely spaced teeth; XerostomiaEctodermal Dysplasia
UROS10q26.2100%gene with protein product606938Abnormal blistering of the skin; Abnormal urinary color; Abnormality of the foot; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the mouth; Absent eyebrow; Alopecia; Atypical scarring of skin; Autosomal recessive inheritance; Cholelithiasis; Congenital onset; Conjunctivitis; Corneal scarring; Cutaneous photosensitivity; Hemolytic anemia; Hyperpigmentation of the skin; Hypertrichosis; Hypopigmentation of the skin; Immunodeficiency; Joint contracture of the hand; Loss of eyelashes; Osteolysis; Osteopenia; Pathologic fracture; Recurrent fractures; Recurrent skin infections; Scleroderma; Short stature; Splenomegaly; Thickened skin; Thrombocytopenia; Vertebral compression fractures
ZMPSTE241p34.2100%gene with protein product606480Abnormal cellular phenotype; Abnormal trabecular bone morphology; Abnormality of the dentition; Abnormality of the fingertips; Abnormality of the neck; Abnormality of the pinna; Absence of pubertal development; Absent eyelashes; Acroosteolysis of distal phalanges (feet); Adrenal hypoplasia; Alopecia; Aminoaciduria; Angina pectoris; 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; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal recessive inheritance; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brittle hair; Broad-based gait; Calcinosis; Choanal atresia; Congenital pseudoarthrosis of the clavicle; Convex nasal ridge; Craniofacial disproportion; Cyanosis; Decreased adipose tissue around neck; Decreased calvarial ossification; Decreased fetal movement; Decreased serum estradiol; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Dental crowding; Dermal atrophy; Dermal translucency; Downslanted palpebral fissures; Entropion; Epidermal hyperkeratosis; Failure to thrive; Flexion contracture; Generalized hyperkeratosis; Generalized lipodystrophy; Glucose intolerance; Hepatic steatosis; Heterogeneous; High palate; High pitched voice; Hydropic placenta; Hyperglycemia; Hyperinsulinemia; Hyperlipidemia; Hypermetropia; Hyperphosphatemia; Hyperpigmentation of the skin; Hypertelorism; Hypertension; Hypodontia; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hypospadias; Hypotrichosis; Increased anterioposterior diameter of thorax; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intrauterine growth retardation; Joint stiffness; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Lack of skin elasticity; Large fontanelles; Lipoatrophy; Loss of facial adipose tissue; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Metaphyseal widening; Micrognathia; Mottled pigmentation; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Osteoarthritis; Osteolytic defects of the distal phalanges of the hand; Osteopenia; Osteoporosis; Overtubulated long bones; Ovoid vertebral bodies; Patent ductus arteriosus; Polyhydramnios; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature rupture of membranes; Progeroid facial appearance; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Proptosis; Pulmonary hypoplasia; Reticulated skin pigmentation; Rocker bottom foot; Scaling skin; Sensorineural hearing impairment; Short clavicles; Short distal phalanx of finger; Short nail; Short nose; Short palpebral fissure; Short phalanx of finger; Short stature; Short umbilical cord; Skin erosion; Small placenta; Sparse and thin eyebrow; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Stiff skin; Stillbirth; Structural foot deformity; Submucous cleft hard palate; Tapering pointed ends of distal finger phalanges; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Ureteral duplication; Widely patent fontanelles and sutures; Wormian bonesHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis


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