XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

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SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

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

SELECTED GENES FOR YOUR SLICE

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Phenotypes
Hypopigmentation of hair

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ATM11q22.399.93%gene with protein product607585ATA, ATDC, ATC, ATDAbnormal spermatogenesis; Abnormality of bone marrow cell morphology; Abnormality of chromosome stability; Abnormality of the hair; Anorexia; Aplasia/Hypoplasia of the thymus; Ataxia; Autosomal recessive inheritance; B-cell lymphoma; Bronchiectasis; Cafe-au-lait spot; Cellular immunodeficiency; Choreoathetosis; Conjunctival telangiectasia; Decreased antibody level in blood; Decreased proportion of CD4-positive T cells; Defective B cell differentiation; Delayed puberty; Diabetes mellitus; Dysarthria; Dystonia; Elevated alpha-fetoprotein; Elevated hepatic transaminases; Fatigue; Female hypogonadism; Fever; Gait disturbance; Glucose intolerance; Hodgkin lymphoma; Hypopigmentation of hair; Hypoplasia of the thymus; IgA deficiency; Immunoglobulin IgG2 deficiency; Leukemia; Lymphadenopathy; Lymphopenia; Mucosal telangiectasiae; Myoclonus; Neoplasm; Non-Hodgkin lymphoma; Nystagmus; Polycystic ovaries; Premature graying of hair; Recurrent bronchitis; Recurrent respiratory infections; Reduced tendon reflexes; Seizures; Short stature; Sinusitis; Skeletal muscle atrophy; Spasticity; Splenomegaly; Strabismus; Telangiectasia of the skin; Tremor; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
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
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
KRT2517q21.2100%gene with protein product616646KRT25AAutosomal recessive inheritance; Brittle hair; Curly hair; Fine hair; Hypopigmentation of hair; Hypotrichosis; Slow-growing hair; Sparse eyelashes; Sparse scalp hair; Trichorrhexis nodosa; Woolly hair
KRT7112q13.1399.98%gene with protein product608245Autosomal dominant inheritance; Brittle hair; Fine hair; Hypopigmentation of hair; Hypotrichosis; Slow-growing hair; Woolly hairPalmoplantar keratoderma plus congenital ichthyosis
KRT7412q13.1399.97%gene with protein product608248Autosomal dominant inheritance; Autosomal recessive inheritance; Brittle hair; Coarse hair; Dry hair; Dystrophic fingernails; Dystrophic toenail; Fine hair; Hair-nail ectodermal dysplasia; Hypopigmentation of hair; Hypotrichosis; Hypotrichosis of the scalp; Onycholysis; Slow-growing hair; Sparse and thin eyebrow; Sparse eyelashes; Woolly hairEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
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
LIPH3q27.299.96%gene with protein product607365Alopecia; Autosomal recessive inheritance; Brittle hair; Fine hair; Hypopigmentation of hair; Hypotrichosis; Hypotrichosis of the scalp; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Woolly hairEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
LPAR613q14.2100%gene with protein product609239P2RY5Alopecia; Autosomal dominant inheritance; Autosomal recessive inheritance; Brittle hair; Coarse hair; Fair hair; Fine hair; Hypopigmentation of hair; Hypotrichosis; Hypotrichosis of the scalp; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Woolly hairPalmoplantar keratoderma plus congenital ichthyosis
LYST1q42.399.95%gene with protein product606897CHS1Abnormality of coagulation; Abnormality of multiple cell lineages in the bone marrow; Amblyopia; Anemia; Areflexia; Autosomal recessive inheritance; Bruising susceptibility; Cranial nerve paralysis; Decreased nerve conduction velocity; Edema; Epistaxis; Fever; Foot dorsiflexor weakness; Gait disturbance; Generalized hypopigmentation; Giant melanosomes in melanocytes; Gingival bleeding; Gingivitis; Global developmental delay; Hepatomegaly; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Immunodeficiency; Intellectual disability; Iris hypopigmentation; Jaundice; Leukopenia; Lymphadenopathy; Lymphoma; Macular hypoplasia; Neurodegeneration; Neutropenia; Nystagmus; Ocular albinism; Paresthesia; Periodontitis; Peripheral neuropathy; Photophobia; Progressive peripheral neuropathy; Recurrent bacterial skin infections; Recurrent cutaneous abscess formation; Recurrent respiratory infections; Recurrent systemic pyogenic infections; Reduced visual acuity; Seizures; Skin ulcer; Splenomegaly; Strabismus; Thrombocytopenia; Tremor; Visual impairment; White hairAlbinism ; Aplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
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
MLPH2q37.3100%gene with protein product606526Autosomal recessive inheritance; Heterogeneous; Hypopigmentation of hair; Large clumps of pigment irregularly distributed along hair shaft; Silver-gray hair; White eyelashesAlbinism ; 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
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
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
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
SLC45A25p13.2100%gene with protein product606202MATPAbnormality of the optic nerve; Albinism; Autosomal recessive inheritance; Blue irides; Hypopigmentation of hair; Hypopigmentation of the fundus; Iris hypopigmentation; Macular hypoplasia; Nystagmus; Photophobia; Strabismus; Thickened skin; Visual impairmentAlbinism
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
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


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