XomeDxSlice Tool

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

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Phenotypes
Hypopigmentation of the skin

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
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
BLOC1S615q21.1100%gene with protein product604310PA, PLDNAutosomal recessive inheritance; Congenital nystagmus; Hypopigmentation of the fundus; Hypopigmentation of the skin; Leukopenia; Nystagmus; Ocular albinism; ThrombocytopeniaAlbinism ; Autoimmune Disorders
CBS21q22.399.94%gene with protein product613381Abnormality of amino acid metabolism; Amblyopia; Arachnodactyly; Arterial thrombosis; Arteriovenous malformation; Autosomal recessive inheritance; Biconcave vertebral bodies; Brittle hair; Cerebral ischemia; Cutis marmorata; Dental crowding; Depressivity; Disproportionate tall stature; Ectopia lentis; Generalized osteoporosis; Genu valgum; Glaucoma; Hepatic steatosis; High palate; Homocystinuria; Hypertension; Hypopigmentation of the skin; Inguinal hernia; Intellectual disability; Joint stiffness; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Mitral valve prolapse; Myocardial infarction; Myopia; Osteoporosis; Pancreatitis; Pectus carinatum; Pectus excavatum; Personality disorder; Pulmonary embolism; Recurrent fractures; Scoliosis; Seizures; Sparse scalp hair; Stroke; Tall stature; Thromboembolism; Venous thrombosis
CTNS17p13.2100%gene with protein product606272Abnormality of the voice; Abnormality of thyroid physiology; Abnormality of vitamin D metabolism; Aminoaciduria; Autosomal recessive inheritance; Cerebral atrophy; Constipation; Corneal crystals; Decreased plasma carnitine; Dehydration; Delayed puberty; Delayed skeletal maturation; Diabetes mellitus; Dysphagia; Elevated intracellular cystine; Episodic metabolic acidosis; Exocrine pancreatic insufficiency; Failure to thrive; Failure to thrive in infancy; Frontal bossing; Generalized aminoaciduria; Genu valgum; Glycosuria; Growth abnormality; Growth delay; Hepatomegaly; Hyperchloremic metabolic acidosis; Hyperphosphaturia; Hypohidrosis; Hypokalemia; Hyponatremia; Hypophosphatemia; Hypophosphatemic rickets; Hypopigmentation of hair; Hypopigmentation of the skin; Juvenile onset; Low-molecular-weight proteinuria; Male infertility; Metaphyseal widening; Microscopic hematuria; Myopathy; Nephrolithiasis; Photophobia; Pigmentary retinopathy; Polydipsia; Polyuria; Primary hypothyroidism; Progressive neurologic deterioration; Proteinuria; Rachitic rosary; Recurrent corneal erosions; Reduced visual acuity; Renal Fanconi syndrome; Renal insufficiency; Renal tubular dysfunction; Retinal pigment epithelial mottling; Retinopathy; Rickets; Short stature; Skeletal muscle atrophy; Splenomegaly; Stage 5 chronic kidney disease; Tubulointerstitial abnormality; Visual impairment; Vomiting
DCPS11q24.2100%gene with protein product610534Autosomal recessive inheritance; Brachydactyly; Congenital onset; Deeply set eye; Flat face; Generalized hypotonia; Global developmental delay; Hypopigmentation of the skin; Joint laxity; Low-set ears; Microcephaly; Narrow mouth; Sandal gap; Short nose; Thin upper lip vermilion; Unsteady gait
EPG518q12.3-q21.100%gene with protein product615068KIAA1632Abnormal posturing; Abnormality of retinal pigmentation; Abnormality of the thymus; Acidosis; Agenesis of corpus callosum; Albinism; Autosomal recessive inheritance; Cardiomyopathy; Cataract; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Chronic mucocutaneous candidiasis; Cleft palate; Cleft upper lip; Congenital cataract; Congenital onset; Congestive heart failure; Cutaneous anergy; Death in infancy; Decreased proportion of CD4-positive T cells; Decreased T cell activation; Depressed nasal tip; Dilated cardiomyopathy; EEG abnormality; Failure to thrive; Generalized hypotonia; Global developmental delay; Growth delay; High palate; Hypertelorism; Hypopigmentation of the fundus; Hypopigmentation of the skin; Hypoplasia of the pons; IgG deficiency; Immunodeficiency; Immunoglobulin IgG2 deficiency; Intellectual disability; Left ventricular hypertrophy; Low-set ears; Microcephaly; Micrognathia; Motor delay; Muscular hypotonia; Myopathy; Nystagmus; Ocular albinism; Optic atrophy; Penile hypospadias; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Renal tubular acidosis; Schizencephaly; Seizures; Short stature; Ureteral atresia; White matter neuronal heterotopiaAlbinism
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
KRAS12p12.1100%gene with protein product190070KRAS2Abdominal pain; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal morphology of the nasolacrimal system; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of the eyelashes; Abnormality of the spleen; Abnormality of the ulna; Abnormality of the ureter; Abnormality of toe; Abnormality of vision; Absent eyebrow; Absent septum pellucidum; Acute myeloid leukemia; Adenoma sebaceum; Aganglionic megacolon; Agenesis of corpus callosum; Alopecia; Alveolar cell carcinoma; Anorexia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the skin; Arrhythmia; Asymmetric growth; Atrial septal defect; Atrial septal dilatation; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Basal cell carcinoma; Biparietal narrowing; Blepharophimosis; Bone cyst; Brachydactyly; Breast carcinoma; Brittle hair; Broad forehead; Capillary hemangiomas; Cavernous hemangioma; Cerebral calcification; Cerebral cortical atrophy; Chronic atrophic gastritis; Chronic fatigue; Coarctation of aorta; Coarse facial features; Coarse hair; Coloboma; Colon cancer; Constipation; Corneal opacity; Cranial asymmetry; Craniofacial hyperostosis; Cryptorchidism; Curly hair; Cystic hygroma; Death in early adulthood; Death in infancy; Deep palmar crease; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphasia; Dystrophic fingernails; Echolalia; EEG abnormality; Enlarged thorax; Epibulbar dermoid; Epicanthus; Excessive wrinkled skin; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fatigue; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Functional intestinal obstruction; Gastrointestinal hemorrhage; Generalized hyperpigmentation; Genu recurvatum; Glioblastoma multiforme; Global developmental delay; Growth delay; Hearing impairment; Hemangioma; Hemimegalencephaly; Hepatomegaly; Heterogeneous; High forehead; High palate; Horseshoe kidney; Hyperextensible skin; Hyperreflexia; Hypertelorism; Hypertonia; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplasia of the zygomatic bone; Ichthyosis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intestinal pseudo-obstruction; Iris coloboma; Irregular hyperpigmentation; Irritability; Jaundice; Joint hyperflexibility; Juvenile myelomonocytic leukemia; Kyphoscoliosis; Laryngeal hypoplasia; Lipodystrophy; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Macrocephaly; Macrotia; Malabsorption; Melanocytic nevus; Micrognathia; Microphthalmia; Midface retrusion; Migraine; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple lipomas; Muscle stiffness; Muscle weakness; Muscular hypotonia; Mutism; Myopia; Nausea and vomiting; Neoplasm of the pancreas; Neoplasm of the rectum; Neoplasm of the skeletal system; Nevus flammeus; Nevus sebaceous; Nystagmus; Osteolysis; Osteopenia; Overgrowth; Palmoplantar keratoderma; Pancreatic adenocarcinoma; Pectus carinatum; Pectus excavatum; Peripheral axonal neuropathy; Plagiocephaly; Polyhydramnios; Poor appetite; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Proptosis; Ptosis; Pulmonary arterial hypertension; Pulmonary artery stenosis; Pulmonic stenosis; Recurrent fractures; Reduced tendon reflexes; Retinopathy; Rigidity; Sagittal craniosynostosis; Scoliosis; Seizures; Short neck; Short nose; Short palm; Short palpebral fissure; Short stature; Slow-growing hair; Somatic mosaicism; Somatic mutation; Sparse hair; Sparse or absent eyelashes; Spasticity; Sporadic; Stomach cancer; Strabismus; Subcortical cerebral atrophy; Subcutaneous nodule; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Tricuspid valve prolapse; Underdeveloped supraorbital ridges; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Visceral angiomatosis; Webbed neck; Weight loss; Wide intermamillary distance; XanthomatosisBone Marrow Failure Syndromes
LAMTOR21q22100%gene with protein product610389ROBLD3Autosomal recessive inheritance; Coarse facial features; Hypopigmentation of hair; Hypopigmentation of the skin; IgM deficiency; Immunodeficiency; Neutropenia; Partial albinism; Recurrent bronchopulmonary infections; Short statureAplastic Anemia ; Bone Marrow Failure Syndromes
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
MITF3p13100%gene with protein product156845WS2A, WS2Abnormal anterior chamber morphology; Abnormality of the hair; Abnormality of the lymphatic system; Albinism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Blue irides; Coloboma; Congenital sensorineural hearing impairment; Dry skin; Freckling; Frontal bossing; Generalized hypopigmentation; Generalized hypotonia; Giant melanosomes in melanocytes; Hearing impairment; Heterochromia iridis; Heterogeneous; Hypermetropia; Hypopigmentation of hair; Hypopigmentation of the fundus; Hypopigmentation of the skin; Hypopigmented skin patches; Hypoplasia of the fovea; Hypoplastic iris stroma; Macrocephaly; Melanoma; Micrognathia; Multiple lentigines; Nevus; Nystagmus; Ocular albinism; Optic nerve dysplasia; Osteopetrosis; Partial albinism; Photophobia; Posteriorly rotated ears; Preauricular pit; Premature graying of hair; Reduced visual acuity; Sensorineural hearing impairment; Shallow orbits; Strabismus; Synophrys; Underdeveloped nasal alae; Variable expressivity; Vestibular hypofunction; Visual impairment; White eyebrow; White eyelashes; White forelock; Wide nasal bridge; X-linked inheritanceAlbinism ; Waardenburg Syndrome
MITF3p13100%gene with protein product156845WS2A, WS2Abnormal anterior chamber morphology; Abnormality of the hair; Abnormality of the lymphatic system; Albinism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Blue irides; Coloboma; Congenital sensorineural hearing impairment; Dry skin; Freckling; Frontal bossing; Generalized hypopigmentation; Generalized hypotonia; Giant melanosomes in melanocytes; Hearing impairment; Heterochromia iridis; Heterogeneous; Hypermetropia; Hypopigmentation of hair; Hypopigmentation of the fundus; Hypopigmentation of the skin; Hypopigmented skin patches; Hypoplasia of the fovea; Hypoplastic iris stroma; Macrocephaly; Melanoma; Micrognathia; Multiple lentigines; Nevus; Nystagmus; Ocular albinism; Optic nerve dysplasia; Osteopetrosis; Partial albinism; Photophobia; Posteriorly rotated ears; Preauricular pit; Premature graying of hair; Reduced visual acuity; Sensorineural hearing impairment; Shallow orbits; Strabismus; Synophrys; Underdeveloped nasal alae; Variable expressivity; Vestibular hypofunction; Visual impairment; White eyebrow; White eyelashes; White forelock; Wide nasal bridge; X-linked inheritanceAlbinism ; Waardenburg Syndrome
MYO5A15q21.299.98%gene with protein product160777MYH12Abnormality of movement; Accumulation of melanosomes in melanocytes; Ataxia; Autosomal recessive inheritance; Diplopia; Generalized hypotonia; Global developmental delay; Hyperlipidemia; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Infantile onset; Intellectual disability; Iris hypopigmentation; Melanin pigment aggregation in hair shafts; Muscular hypotonia; Myopia; Nystagmus; Partial albinism; Premature graying of hair; Retinopathy; Seizures; Silver-gray hair; Specific learning disability; Tremor; White hairAlbinism ; Palmoplantar keratoderma plus congenital ichthyosis
MYO5A15q21.299.98%gene with protein product160777MYH12Abnormality of movement; Accumulation of melanosomes in melanocytes; Ataxia; Autosomal recessive inheritance; Diplopia; Generalized hypotonia; Global developmental delay; Hyperlipidemia; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Infantile onset; Intellectual disability; Iris hypopigmentation; Melanin pigment aggregation in hair shafts; Muscular hypotonia; Myopia; Nystagmus; Partial albinism; Premature graying of hair; Retinopathy; Seizures; Silver-gray hair; Specific learning disability; Tremor; White hairAlbinism ; Palmoplantar keratoderma plus congenital ichthyosis
NRAS1p13.299.99%gene with protein product164790Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of metabolism/homeostasis; Abnormality of the spleen; Abnormality of toe; Abnormality of vision; Adenoma sebaceum; Alopecia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Arrhythmia; Asymmetric growth; Asymmetry of the thorax; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Basal cell carcinoma; Biparietal narrowing; Broad forehead; Broad nasal tip; Cavernous hemangioma; Coarctation of aorta; Coarse hair; Coloboma; Congenital giant melanocytic nevus; Congenital onset; Cranial asymmetry; Cranial nerve paralysis; Cryptorchidism; Curly hair; Cutaneous melanoma; Cystic hygroma; Death in infancy; Decreased lymphocyte apoptosis; Deep philtrum; Delayed skeletal maturation; Downslanted palpebral fissures; Dysarthria; EEG abnormality; Enlarged thorax; Everted lower lip vermilion; Facial asymmetry; Feeding difficulties in infancy; Follicular hyperplasia; Follicular thyroid carcinoma; Frontal bossing; Full cheeks; Generalized hirsutism; Generalized hypotonia; Genu recurvatum; Hemangioma; Hemimegalencephaly; Hemolytic anemia; Hepatomegaly; Hereditary nonpolyposis colorectal carcinoma; High forehead; High palate; Horseshoe kidney; Hyperkeratosis; Hyperreflexia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Ichthyosis; Increased antibody level in blood; Intellectual disability; Iris coloboma; Irregular hyperpigmentation; Joint hyperflexibility; Kyphoscoliosis; Leukemia; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphoma; Lymphoproliferative disorder; Melanocytic nevus; Melanoma; Mental deterioration; Micrognathia; Microphthalmia; Midface retrusion; Monocytosis; Muscle weakness; Muscular hypotonia; Narrow nasal ridge; Neoplasm of the stomach; Neutropenia; Nevus sebaceous; Non-medullary thyroid carcinoma; Numerous congenital melanocytic nevi; Numerous nevi; Open mouth; Osteopenia; Overgrowth; Pancytopenia; Pectus carinatum; Pectus excavatum; Periorbital fullness; Plagiocephaly; Porencephalic cyst; Prominence of the premaxilla; Prominent forehead; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Recurrent fractures; Reduced tendon reflexes; Renal cell carcinoma; Round face; Scoliosis; Seizures; Short nose; Short stature; Somatic mosaicism; Splenomegaly; Sporadic; Strabismus; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Uterine leiomyosarcoma; Vertebral segmentation defect; Webbed neck; Wide intermamillary distance
PAH12q23.2100%gene with protein product612349Aggressive behavior; Anxiety; Attention deficit hyperactivity disorder; Autism; Autosomal recessive inheritance; Blue irides; Cataract; Cerebral calcification; Depressivity; Dry skin; Eczema; Fair hair; Generalized hypopigmentation; Global developmental delay; Growth delay; Hyperphenylalaninemia; Hyperreflexia; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Increased level of hippuric acid in urine; Intellectual disability; Intellectual disability, severe; Irritability; Maternal hyperphenylalaninemia; Memory impairment; Microcephaly; Nausea and vomiting; Obsessive-compulsive behavior; Phenylpyruvic acidemia; Psychosis; Reduced phenylalanine hydroxylase activity; Scleroderma; Seizures; Self-mutilation; Tremor
PCSK15q1599.95%gene with protein product162150NEC1Central adrenal insufficiency; Childhood-onset truncal obesity; Cholestasis; Decreased circulating cortisol level; Diarrhea; Hypogonadotrophic hypogonadism; Hypopigmentation of the skin; Increased adipose tissue; Malabsorption; Obesity; Phenotypic variability; Polyphagia; Primary amenorrhea; Reactive hypoglycemia; Red hair; Sporadic; Villous atrophyObesity
POLH6p21.199.98%gene with protein product603968Autosomal recessive inheritance; Basal cell carcinoma; Conjunctivitis; Cutaneous melanoma; Cutaneous photosensitivity; Dermal atrophy; Dry skin; Ectropion; Entropion; Freckles in sun-exposed areas; Hypopigmentation of the skin; Keratitis; Melanoma; Photophobia; Poikiloderma; Squamous cell carcinoma; Telangiectasia
POMC2p23.3100%gene with protein product176830Adrenal insufficiency; Adrenocorticotropic hormone deficiency; Autosomal recessive inheritance; Central adrenal insufficiency; Childhood-onset truncal obesity; Cholestasis; Hypoglycemic seizures; Hypopigmentation of the skin; Increased adipose tissue; Obesity; Polyphagia; Red hairObesity
RAB27A15q21.399.98%gene with protein product603868Abnormality of the cerebellum; Accumulation of melanosomes in melanocytes; Autosomal recessive inheritance; Death in childhood; Hemophagocytosis; Hepatomegaly; Hyperlipidemia; Hypopigmentation of hair; Hypopigmentation of the skin; Immunodeficiency; Infantile onset; Jaundice; Lymphadenopathy; Melanin pigment aggregation in hair shafts; Neutropenia; Pancytopenia; Partial albinism; Premature graying of hair; Recurrent bacterial infections; Reduced delayed hypersensitivity; Seizures; Silver-gray hair; Spasticity; SplenomegalyAlbinism ; Aplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
SLC17A56q1399.99%gene with protein product604322SIASDAbnormality of metabolism/homeostasis; Abnormality of the foot; Abnormality of the thorax; Anteverted nares; Ascites; Ataxia; Athetosis; Autosomal recessive inheritance; Cardiomegaly; Cerebral atrophy; Coarse facial features; Congestive heart failure; Conjugated hyperbilirubinemia; Death in childhood; Delayed speech and language development; Dysarthria; Epicanthus; Exotropia; Failure to thrive; Fair hair; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Growth delay; Hepatomegaly; High palate; Hydrocephalus; Hydrops fetalis; Hypopigmentation of the skin; Inability to walk; Intellectual disability; J-shaped sella turcica; Metaphyseal irregularity; Nephrotic syndrome; Nystagmus; Osteopenia; Premature birth; Ptosis; Seizures; Spasticity; Splenomegaly; Thickened calvaria; Vacuolated lymphocytes
TYR11q14.3100%gene with protein product606933Abnormality of retinal pigmentation; Abnormality of the optic nerve; Abnormality of visual evoked potentials; Absent skin pigmentation; Albinism; Astigmatism; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue irides; Congenital onset; Freckling; Giant melanosomes in melanocytes; Hypermetropia; Hypopigmentation of hair; Hypopigmentation of the fundus; Hypopigmentation of the skin; Hypoplasia of the fovea; Iris hypopigmentation; Melanocytic nevus; Multiple lentigines; Myopia; Nystagmus; Ocular albinism; Optic nerve dysplasia; Photophobia; Reduced visual acuity; Sensorineural hearing impairment; Strabismus; Vestibular hypofunction; Visual impairment; White hair; X-linked inheritanceAlbinism
TYR11q14.3100%gene with protein product606933Abnormality of retinal pigmentation; Abnormality of the optic nerve; Abnormality of visual evoked potentials; Absent skin pigmentation; Albinism; Astigmatism; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue irides; Congenital onset; Freckling; Giant melanosomes in melanocytes; Hypermetropia; Hypopigmentation of hair; Hypopigmentation of the fundus; Hypopigmentation of the skin; Hypoplasia of the fovea; Iris hypopigmentation; Melanocytic nevus; Multiple lentigines; Myopia; Nystagmus; Ocular albinism; Optic nerve dysplasia; Photophobia; Reduced visual acuity; Sensorineural hearing impairment; Strabismus; Vestibular hypofunction; Visual impairment; White hair; X-linked inheritanceAlbinism
UBE3A15q11.2100%gene with protein product601623EPVE6AP, HPVE6AAbsent speech; Apraxia; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Blue irides; Brachycephaly; Broad-based gait; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Clumsiness; Constipation; Deeply set eye; Delayed speech and language development; Drooling; EEG abnormality; Exotropia; Fair hair; Feeding difficulties in infancy; Flat occiput; Generalized hypotonia; Global developmental delay; Hyperactivity; Hyperreflexia; Hypopigmentation of the skin; Hypoplasia of the maxilla; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb tremor; Macroglossia; Mandibular prognathia; Motor delay; Muscular hypotonia; Myopia; Nystagmus; Obesity; Obsessive-compulsive behavior; Paroxysmal bursts of laughter; Postnatal microcephaly; Progressive gait ataxia; Protruding tongue; Scoliosis; Seizures; Sleep-wake cycle disturbance; Sporadic; Strabismus; Wide mouth; Widely spaced teeth
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
WDR7315q25.2100%gene with protein product616144Abnormality of the skin; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Brain atrophy; Camptodactyly; Cataract; Cognitive impairment; Diffuse mesangial sclerosis; Dysarthria; EEG abnormality; Epicanthus; Flat occiput; Focal segmental glomerulosclerosis; Global developmental delay; Hand clenching; Hiatus hernia; High palate; Hyperreflexia; Hypertelorism; Hypoalbuminemia; Hypopigmentation of the skin; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the ear cartilage; Hypoplasia of the iris; Infantile onset; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Low-set ears; Macrotia; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Motor delay; Muscular hypotonia; Narrow nasal ridge; Nephropathy; Nephrotic syndrome; Nystagmus; Oligohydramnios; Opacification of the corneal stroma; Optic atrophy; Pachygyria; Pes cavus; Postnatal microcephaly; Premature birth; Progressive extrapyramidal movement disorder; Prominent nose; Proteinuria; Ptosis; Renal insufficiency; Seizures; Short stature; Slender finger; Sloping forehead; Small for gestational age; Small nail; Spasticity; Strabismus; Talipes equinovarus; Wide mouth
XPC3p25.1100%gene with protein product613208Abnormality of the dentition; Arthralgia; Autosomal recessive inheritance; Basal cell carcinoma; Cataract; Childhood onset; Cognitive impairment; Conjunctival telangiectasia; Conjunctivitis; Cryptorchidism; Cutaneous melanoma; Cutaneous photosensitivity; Defective DNA repair after ultraviolet radiation damage; Dermal atrophy; Developmental regression; Dry skin; Ectropion; EEG abnormality; Entropion; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Hyperkeratosis; Hypermelanotic macule; Hypogonadism; Hypopigmentation of the skin; Hypopigmented skin patches; Intellectual disability, progressive; Keratitis; Melanoma; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Sensorineural hearing impairment; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin
ZNF59215q25.2100%gene with protein product613624SCAR5Abnormality of the skin; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Brain atrophy; Camptodactyly; Cataract; Diffuse mesangial sclerosis; Dysarthria; Epicanthus; Flat occiput; Focal segmental glomerulosclerosis; Global developmental delay; Hand clenching; Hiatus hernia; High palate; Hyperreflexia; Hypertelorism; Hypoalbuminemia; Hypopigmentation of the skin; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the iris; Infantile onset; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Low-set ears; Macrotia; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Motor delay; Muscular hypotonia; Narrow nasal ridge; Nephrotic syndrome; Nystagmus; Oligohydramnios; Opacification of the corneal stroma; Optic atrophy; Pachygyria; Pes cavus; Postnatal microcephaly; Progressive extrapyramidal movement disorder; Prominent nose; Ptosis; Renal insufficiency; Seizures; Short stature; Slender finger; Sloping forehead; Small for gestational age; Small nail; Spasticity; Strabismus; Talipes equinovarus; Wide mouth


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