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
Abnormality of macular pigmentation

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCA41p22.1100%gene with protein product601691STGD1, ABCR, RP19, STGDAbnormal choroid morphology; Abnormal electroretinogram; Abnormal foveal morphology; Abnormality of color vision; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Abnormality of visual evoked potentials; Anteverted nares; Aplasia/Hypoplasia of the macula; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Central scotoma; Conductive hearing impairment; Cone/cone-rod dystrophy; Constriction of peripheral visual field; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Macular degeneration; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Paroxysmal involuntary eye movements; Photophobia; Progressive night blindness; Reduced visual acuity; Retinal pigment epithelial atrophy; Retinal pigment epithelial mottling; Retinal thinning; Retinitis pigmentosa inversa; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Visual loss; Wide nasal bridge; Yellow/white lesions of the macula
CABP411q13.2100%gene with protein product608965Abnormality of macular pigmentation; Autosomal recessive inheritance; Congenital stationary night blindness; Electronegative electroretinogram; High myopia; Nyctalopia; Nystagmus; Optic disc hypoplasia; Photophobia; Reduced visual acuity; Visual impairment
CACNA1FXp11.2399.91%gene with protein product300110CSNB2, AIEDAbnormal electroretinogram; Abnormal light- and dark-adapted electroretinogram; Abnormality of color vision; Abnormality of macular pigmentation; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Albinism; Astigmatism; Central scotoma; Cone/cone-rod dystrophy; Congenital stationary night blindness; Difficulty adjusting from light to dark; Heterogeneous; High myopia; Hypopigmentation of the fundus; Hypoplasia of the fovea; Myopia; Nyctalopia; Nystagmus; Optic disc hypoplasia; Photophobia; Reduced visual acuity; Severe visual impairment; Visual impairment; X-linked inheritance; X-linked recessive inheritance
CACNA1FXp11.2399.91%gene with protein product300110CSNB2, AIEDAbnormal electroretinogram; Abnormal light- and dark-adapted electroretinogram; Abnormality of color vision; Abnormality of macular pigmentation; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Albinism; Astigmatism; Central scotoma; Cone/cone-rod dystrophy; Congenital stationary night blindness; Difficulty adjusting from light to dark; Heterogeneous; High myopia; Hypopigmentation of the fundus; Hypoplasia of the fovea; Myopia; Nyctalopia; Nystagmus; Optic disc hypoplasia; Photophobia; Reduced visual acuity; Severe visual impairment; Visual impairment; X-linked inheritance; X-linked recessive inheritance
CACNA2D412p13.33100%gene with protein product608171Abnormality of color vision; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Autosomal recessive inheritance; Cone/cone-rod dystrophy; Constriction of peripheral visual field; Electronegative electroretinogram; High myopia; Nyctalopia; Optic disc hypoplasia; Photophobia; Reduced visual acuity; Retinal pigment epithelial mottling; Visual impairment
CDH316q22.1100%gene with protein product114021Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Abnormality of the dentition; Abnormality of the nail; Abnormality of vision; Absent eyebrow; Autosomal recessive inheritance; Blindness; Brittle hair; Camptodactyly; Carious teeth; Cone/cone-rod dystrophy; Ectodermal dysplasia; Ectrodactyly; Fine hair; Finger syndactyly; Hypotrichosis; Joint contracture of the hand; Macular degeneration; Macular dystrophy; Microdontia; Pili torti; Reduced visual acuity; Retinopathy; Selective tooth agenesis; Short stature; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Sparse scalp hair; Split hand; Syndactyly; Widely spaced teethEctodermal Dysplasia
CNGB38q21.398.65%gene with protein product605080ACHM3, ACHM1, RMCHAbnormal choroid morphology; Abnormal electroretinogram; Abnormal foveal morphology; Abnormality of color vision; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Abnormality of visual evoked potentials; Achromatopsia; Aplasia/Hypoplasia of the macula; Autosomal recessive inheritance; Cataract; Central scotoma; Dyschromatopsia; Exotropia; High myopia; Horizontal pendular nystagmus; Hypermetropia; Macular degeneration; Monochromacy; Nyctalopia; Paroxysmal involuntary eye movements; Pendular nystagmus; Photophobia; Reduced visual acuity; Retinal pigment epithelial atrophy; Retinal pigment epithelial mottling; Retinal thinning; Retinitis pigmentosa inversa; Severe visual impairment; Visual impairment; Yellow/white lesions of the macula
ELOVL46q14.1100%gene with protein product605512STGD2, STGD3, SCA34Abnormal choroid morphology; Abnormal foveal morphology; Abnormality of color vision; Abnormality of macular pigmentation; Abnormality of visual evoked potentials; Aplasia/Hypoplasia of the macula; Autosomal dominant inheritance; Autosomal recessive inheritance; Central scotoma; Dry skin; Dysarthria; Dysdiadochokinesis; Gait disturbance; Hypohidrosis; Hyporeflexia; Macular degeneration; Macular dystrophy; Macular flecks; Macule; Nyctalopia; Nystagmus; Papule; Paroxysmal involuntary eye movements; Progressive cerebellar ataxia; Reduced visual acuity; Retinal pigment epithelial atrophy; Retinal pigment epithelial mottling; Retinal thinning; Urticaria; Visual impairment; Yellow/white lesions of the maculaPalmoplantar keratoderma plus congenital ichthyosis
GNAT13p21.31100%gene with protein product139330Abnormality of macular pigmentation; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital stationary night blindness; High myopia; Nyctalopia; Optic disc hypoplasia; Reduced visual acuity
GNB312p13.31100%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. 139130Abnormality of macular pigmentation; Autosomal recessive inheritance; High myopia; Nyctalopia; Optic disc hypoplasia; Photophobia; Reduced visual acuity
GPR17917q12100%gene with protein product614515GPR158L1Abnormality of macular pigmentation; Autosomal recessive inheritance; Congenital stationary night blindness; High myopia; Myopia; Nyctalopia; Nystagmus; Optic disc hypoplasia; Reduced visual acuity; Visual impairment; X-linked recessive inheritance
GRK113q3485.64%gene with protein product180381RHOKAbnormality of macular pigmentation; Autosomal recessive inheritance; Congenital stationary night blindness; High myopia; Nyctalopia; Optic disc hypoplasia; Reduced visual acuity
GRM65q35.399.96%gene with protein product604096Abnormality of macular pigmentation; Autosomal recessive inheritance; Congenital stationary night blindness; Hemeralopia; High myopia; Myopia; Nyctalopia; Optic disc hypoplasia; Reduced visual acuity
LRIT34q25100%gene with protein product615004Abnormality of macular pigmentation; Autosomal recessive inheritance; Congenital stationary night blindness; High myopia; Myopia; Nyctalopia; Optic disc hypoplasia; Reduced visual acuity
NYXXp11.4100%gene with protein product300278CSNB1, CSNB4Abnormality of macular pigmentation; Congenital stationary night blindness; Hemeralopia; High myopia; Nyctalopia; Optic disc hypoplasia; Reduced visual acuity; X-linked recessive inheritance
PCYT1A3q2999.99%gene with protein product123695PCYT1Abnormal electroretinogram; Abnormality of color vision; Abnormality of macular pigmentation; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the ribs; Aplasia/Hypoplasia of the cerebellar vermis; Astigmatism; Autosomal recessive inheritance; Bowing of the long bones; Brachydactyly; Cataract; Cone/cone-rod dystrophy; Coxa vara; Cupped ribs; Decreased hip abduction; Dental malocclusion; Encephalocele; Femoral bowing; Hemiplegia/hemiparesis; High hypermetropia; Hyperlordosis; Hypoplastic inferior ilia; Iris hypopigmentation; Joint stiffness; Keratoconus; Large central visual field defect; Metaphyseal cupping; Metaphyseal irregularity; Metaphyseal widening; Muscular hypotonia; Myopia; Narrow greater sacrosciatic notches; Nyctalopia; Nystagmus; Ovoid vertebral bodies; Peripheral visual field loss; Photophobia; Platyspondyly; Postnatal growth retardation; Progressive visual loss; Recurrent otitis media; Rhizomelia; Scoliosis; Seizures; Severe platyspondyly; Severe short stature; Severe visual impairment; Short finger; Short metacarpal; Spondylometaphyseal dysplasia; Tibial bowing; Visual loss
PDE6B4p16.399.86%gene with protein product180072PDEBAbnormal electroretinogram; Abnormal light- and dark-adapted electroretinogram; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Congenital stationary night blindness; Glaucoma; High myopia; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc hypoplasia; Photophobia; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
PROM14p15.3299.12%gene with protein product604365PROML1, MCDR2, STGD4Abnormal choroid morphology; Abnormal electroretinogram; Abnormal foveal morphology; Abnormality of color vision; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Abnormality of visual evoked potentials; Anteverted nares; Aplasia/Hypoplasia of the macula; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Central scotoma; Conductive hearing impairment; Cone/cone-rod dystrophy; Dyschromatopsia; Glaucoma; Granular macular appearance; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Macular degeneration; Macular dystrophy; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Paroxysmal involuntary eye movements; Perifoveal ring of hyperautofluorescence; Peripheral visual field loss; Photophobia; Progressive night blindness; Reduced visual acuity; Retinal flecks; Retinal pigment epithelial atrophy; Retinal pigment epithelial mottling; Retinal thinning; Rod-cone dystrophy; Sensorineural hearing impairment; Undetectable electroretinogram; Wide nasal bridge; Yellow/white lesions of the macula
PRPH26p21.179.5%gene with protein product179605RP7, RDSAbnormal choroid morphology; Abnormal electroretinogram; Abnormal foveal morphology; Abnormality of color vision; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Abnormality of visual evoked potentials; Adult-onset night blindness; Anteverted nares; Aplasia/Hypoplasia of the macula; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Central scotoma; Chorioretinal atrophy; Choroideremia; Conductive hearing impairment; Constriction of peripheral visual field; Fundus albipunctatus; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Iris hypopigmentation; Keratoconus; Macular atrophy; Macular degeneration; Macular dystrophy; Metamorphopsia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Paroxysmal involuntary eye movements; Photophobia; Pigmentary retinopathy; Progressive night blindness; Reduced visual acuity; Reticular retinal dystrophy; Retinal flecks; Retinal pigment epithelial atrophy; Retinal pigment epithelial mottling; Retinal thinning; Rod-cone dystrophy; Sensorineural hearing impairment; Visual field defect; Visual impairment; Vitelliform-like macular lesions; Wide nasal bridge; Yellow/white lesions of the macula
RD31q32.3100%gene with protein product180040C1orf36Abnormal electroretinogram; Abnormality of macular pigmentation; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Aplasia/Hypoplasia of the cerebellar vermis; Autosomal recessive inheritance; Cataract; Congenital blindness; Encephalocele; Hemiplegia/hemiparesis; Keratoconus; Muscular hypotonia; Nystagmus; Seizures; Severe visual impairment
RHO3q22.1100%gene with protein product180380RP4Abnormal electroretinogram; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Congenital stationary night blindness; Decreased light- and dark-adapted electroretinogram amplitude; Fundus albipunctatus; Glaucoma; High myopia; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc hypoplasia; Photophobia; Pigmentary retinopathy; Progressive night blindness; Reduced visual acuity; Retinal flecks; Rod-cone dystrophy; Sensorineural hearing impairment; Visual field defect; Wide nasal bridge
SAG2q37.199.98%gene with protein product181031Abnormal electroretinogram; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Chorioretinal atrophy; Conductive hearing impairment; Congenital stationary night blindness; Decreased light- and dark-adapted electroretinogram amplitude; Glaucoma; Hemeralopia; High myopia; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc hypoplasia; Photophobia; Pigmentary retinopathy; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge
SLC24A115q22.31100%gene with protein product603617Abnormality of macular pigmentation; Autosomal recessive inheritance; Congenital stationary night blindness; High myopia; Nyctalopia; Optic disc hypoplasia; Reduced visual acuity
TRPM115q13.3100%gene with protein product603576MLSN1Abnormal electroretinogram; Abnormality of macular pigmentation; Congenital stationary night blindness; Dry skin; Eczema; High myopia; Myopia; Nyctalopia; Nystagmus; Optic disc hypoplasia; Reduced visual acuity


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