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)

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Ocular albinism

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AP3B15q14.1100%gene with protein product603401Aberrant melanosome maturation; Acetabular dysplasia; Albinism; Autosomal recessive inheritance; Carious teeth; Coarse facial features; Congenital onset; Fair hair; Hepatomegaly; Hip dysplasia; Intellectual disability, mild; Long philtrum; Low-set ears; Microcephaly; Motor delay; Neutropenia; Nystagmus; Ocular albinism; Periodontitis; Photophobia; Posteriorly rotated ears; Pulmonary fibrosis; Recurrent bacterial infections; Reduced visual acuity; Smooth philtrum; Splenomegaly; Strabismus; Thin upper lip vermilion; Thrombocytopenia; Upslanted palpebral fissure; Visual impairment; Wide nasal bridgeAlbinism ; Aplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes
AP3D119p13.398.52%gene with protein product607246Aplasia/Hypoplasia of the macula; Astigmatism; Autosomal recessive inheritance; Cerebral atrophy; Delayed myelination; Dystonia; EEG abnormality; Feeding difficulties; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Hepatomegaly; Hypotelorism; Immunodeficiency; Infantile onset; Interstitial pulmonary abnormality; Low-set ears; Macrotia; Microcephaly; Miosis; Muscular hypotonia of the trunk; Neutropenia; Nystagmus; Ocular albinism; Photophobia; Recurrent respiratory infections; Retrognathia; Smooth philtrum; Splenomegaly; Strabismus; Visual impairmentAlbinism
AP3D119p13.398.52%gene with protein product607246Aplasia/Hypoplasia of the macula; Astigmatism; Autosomal recessive inheritance; Cerebral atrophy; Delayed myelination; Dystonia; EEG abnormality; Feeding difficulties; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Hepatomegaly; Hypotelorism; Immunodeficiency; Infantile onset; Interstitial pulmonary abnormality; Low-set ears; Macrotia; Microcephaly; Miosis; Muscular hypotonia of the trunk; Neutropenia; Nystagmus; Ocular albinism; Photophobia; Recurrent respiratory infections; Retrognathia; Smooth philtrum; Splenomegaly; Strabismus; Visual impairmentAlbinism
BLOC1S319q13.32100%gene with protein product609762Albinism; Autosomal recessive inheritance; Bruising susceptibility; Ocular albinism; Visual impairmentAlbinism
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
DTNBP16p22.3100%gene with protein product607145Albinism; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Impaired platelet aggregation; Nystagmus; Ocular albinism; Reduced visual acuity; Visual impairmentAlbinism
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
GPR143Xp22.296.98%gene with protein product300808OA1Abnormal pupil morphology; Amblyopia; Astigmatism; Depigmented fundus; Freckling; Giant melanosomes in melanocytes; Horizontal nystagmus; Hyperopic astigmatism; Hypoplasia of the fovea; Nystagmus; Nystagmus-induced head nodding; Ocular albinism; Photophobia; Strabismus; Visual impairment; X-linked inheritanceAlbinism ; Palmoplantar keratoderma plus congenital ichthyosis
GPR143Xp22.296.98%gene with protein product300808OA1Abnormal pupil morphology; Amblyopia; Astigmatism; Depigmented fundus; Freckling; Giant melanosomes in melanocytes; Horizontal nystagmus; Hyperopic astigmatism; Hypoplasia of the fovea; Nystagmus; Nystagmus-induced head nodding; Ocular albinism; Photophobia; Strabismus; Visual impairment; X-linked inheritanceAlbinism ; Palmoplantar keratoderma plus congenital ichthyosis
HPS110q24.2100%gene with protein product604982HPSAbdominal pain; Abnormality of the hair; Albinism; Autosomal recessive inheritance; Bruising susceptibility; Cardiomyopathy; Epistaxis; Freckles in sun-exposed areas; Freckling; Gingival bleeding; Hematochezia; Heterogeneous; Inflammation of the large intestine; Melanocytic nevus; Nystagmus; Ocular albinism; Prolonged bleeding time; Pulmonary fibrosis; Renal insufficiency; Restrictive ventilatory defect; Severe visual impairmentAlbinism
HPS422q12.1100%gene with protein product606682Abnormal platelet granules; Albinism; Autosomal recessive inheritance; Ocular albinism; Pulmonary fibrosisAlbinism
HPS511p15.1100%gene with protein product607521Albinism; Autosomal recessive inheritance; Bruising susceptibility; Ocular albinism; ThrombocytopeniaAlbinism
HPS610q24.32100%gene with protein product607522Abnormal platelet granules; Albinism; Autosomal recessive inheritance; Epistaxis; Impaired ADP-induced platelet aggregation; Ocular albinismAlbinism
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
PMPCA9q34.3100%gene with protein product613036INPP5EAbnormality of the retinal vasculature; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Cataract; Cerebellar hypoplasia; Delayed speech and language development; Dysarthria; Dysmetria; Gait ataxia; Gait disturbance; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Hyperreflexia; Incoordination; Infantile onset; Intellectual disability; Limb ataxia; Malabsorption; Muscular hypotonia; Nonprogressive; Nystagmus; Ocular albinism; Saccadic smooth pursuit; Scoliosis; Spasticity; Tremor; Unsteady gait; White hair
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
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