XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Macular degeneration

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
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
ABCC616p13.1193.19%gene with protein product603234ARA, PXEAbnormality of the cerebral vasculature; Abnormality of the mouth; Abnormality of the sternum; Accelerated atherosclerosis; Angina pectoris; Angioid streaks of the fundus; Arterial stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Bruising susceptibility; Calcification of falx cerebri; Cerebral hemorrhage; Civatte bodies; Congestive heart failure; Coronary artery calcification; Excessive wrinkled skin; Gastrointestinal hemorrhage; High palate; High, narrow palate; Hypermelanotic macule; Intermittent claudication; Kyphosis; Macular degeneration; Medial calcification of large arteries; Medial calcification of medium-sized arteries; Mitral stenosis; Mitral valve prolapse; Myopia; Premature occlusive vascular stenosis; Reduced visual acuity; Renal insufficiency; Restrictive cardiomyopathy; Retinal hemorrhage; Retinopathy; Scoliosis; Skin rash; Striae distensae; Stroke; Thickened nuchal skin fold; Visual impairment; Yellow papule
ABCC616p13.1193.19%gene with protein product603234ARA, PXEAbnormality of the cerebral vasculature; Abnormality of the mouth; Abnormality of the sternum; Accelerated atherosclerosis; Angina pectoris; Angioid streaks of the fundus; Arterial stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Bruising susceptibility; Calcification of falx cerebri; Cerebral hemorrhage; Civatte bodies; Congestive heart failure; Coronary artery calcification; Excessive wrinkled skin; Gastrointestinal hemorrhage; High palate; High, narrow palate; Hypermelanotic macule; Intermittent claudication; Kyphosis; Macular degeneration; Medial calcification of large arteries; Medial calcification of medium-sized arteries; Mitral stenosis; Mitral valve prolapse; Myopia; Premature occlusive vascular stenosis; Reduced visual acuity; Renal insufficiency; Restrictive cardiomyopathy; Retinal hemorrhage; Retinopathy; Scoliosis; Skin rash; Striae distensae; Stroke; Thickened nuchal skin fold; Visual impairment; Yellow papule
ALDH3A217p11.2100%gene with protein product609523SLS, ALDH10Abnormal pyramidal signs; Abnormality of retinal pigmentation; Autosomal recessive inheritance; CNS demyelination; Corneal erosion; Dry skin; Dysarthria; Erythema; Generalized hyperpigmentation; Hyperkeratosis; Hypoplasia of dental enamel; Ichthyosis; Inflammatory abnormality of the eye; Intellectual disability; Kyphosis; Macular degeneration; Myopia; Opacification of the corneal epithelium; Photophobia; Retinopathy; Seizures; Short stature; Skeletal dysplasia; Spastic diplegia; Spasticity; Thoracic kyphosisPalmoplantar keratoderma plus congenital ichthyosis
ALDH3A217p11.2100%gene with protein product609523SLS, ALDH10Abnormal pyramidal signs; Abnormality of retinal pigmentation; Autosomal recessive inheritance; CNS demyelination; Corneal erosion; Dry skin; Dysarthria; Erythema; Generalized hyperpigmentation; Hyperkeratosis; Hypoplasia of dental enamel; Ichthyosis; Inflammatory abnormality of the eye; Intellectual disability; Kyphosis; Macular degeneration; Myopia; Opacification of the corneal epithelium; Photophobia; Retinopathy; Seizures; Short stature; Skeletal dysplasia; Spastic diplegia; Spasticity; Thoracic kyphosisPalmoplantar keratoderma plus congenital ichthyosis
ANO103p22.1-p21.3100%gene with protein product613726TMEM16KAbnormal enzyme/coenzyme activity; Ankle clonus; Autosomal recessive inheritance; Brisk reflexes; Cerebellar atrophy; Downbeat nystagmus; Dysarthria; Dysmetria; Dysmetric saccades; EMG abnormality; Fasciculations; Gait ataxia; Generalized seizures; Hypermetric saccades; Hyperreflexia; Leg muscle stiffness; Limb ataxia; Macular degeneration; Nystagmus; Pes cavus; Progressive cerebellar ataxia; Progressive gait ataxia; Ptosis; Saccadic smooth pursuit; Slurred speech; Truncal ataxia
ATXN73p14.1100%gene with protein productXomeDxSlice is not appropriate.607640SCA7Abnormality of extrapyramidal motor function; Autosomal dominant inheritance; Babinski sign; Chorea; Dysmetria; Dysphagia; Genetic anticipation with paternal anticipation bias; Macular degeneration; Olivopontocerebellar atrophy; Orofacial dyskinesia; Pigmentary retinopathy; Progressive visual loss; Slow saccadic eye movements; Spasticity; Supranuclear ophthalmoplegia
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
CEP789q21.299.76%gene with protein product617110C9orf81Abnormal cochlea morphology; Abnormal electroretinogram; Astigmatism; Ataxia; Autosomal recessive inheritance; Cataract; Hemianopia; High hypermetropia; Iris hypopigmentation; Macular degeneration; Nyctalopia; Nystagmus; Photophobia; Scotoma; Sensorineural hearing impairment; Vestibular hypofunction; Visual loss
CLN316p12.1100%gene with protein product607042BTSAbnormality of the cerebellum; Anxiety; Autosomal recessive inheritance; Blindness; Cerebral atrophy; Concentric hypertrophic cardiomyopathy; Curvilinear intracellular accumulation of autofluorescent lipopigment storage material; Dementia; Dysarthria; Fingerprint intracellular accumulation of autofluorescent lipopigment storage material; Increased extraneuronal autofluorescent lipopigment; Increased neuronal autofluorescent lipopigment; Intellectual disability; Macular degeneration; Myoclonus; Optic atrophy; Parkinsonism; Progressive inability to walk; Progressive visual loss; Psychomotor deterioration; Psychosis; Rod-cone dystrophy; Seizures; Undetectable electroretinogram; Vacuolated lymphocytes
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
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
COL18A121q22.399.59%gene with protein product120328KNOAbnormal vitreous humor morphology; Ataxia; Autosomal recessive inheritance; Band keratopathy; Calvarial skull defect; Cerebellar atrophy; Cerebral atrophy; Congenital cataract; High myopia; Hydrocephalus; Macular degeneration; Macular hypoplasia; Myopia; Nystagmus; Occipital encephalocele; Phenotypic variability; Phthisis bulbi; Polymicrogyria; Progressive visual loss; Retinal detachment; Seizures; Ventriculomegaly; Visual loss; Vitreoretinal degeneration
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
FBN25q23.3100%gene with protein product612570CCAAbnormally folded helix; Adducted thumb; Aortic root aneurysm; Arachnodactyly; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal dominant inheritance; Bicuspid aortic valve; Brachycephaly; Calf muscle hypoplasia; Camptodactyly of finger; Congenital kyphoscoliosis; Crumpled ear; Disproportionate tall stature; Distal arthrogryposis; Ectopia lentis; Frontal bossing; High palate; Joint stiffness; Macular degeneration; Metatarsus adductus; Mitral regurgitation; Mitral valve prolapse; Motor delay; Myopia; Osteopenia; Patellar dislocation; Patellar subluxation; Patent ductus arteriosus; Pectus carinatum; Reduced visual acuity; Scaphocephaly; Short neck; Slender build; Ulnar deviation of finger; Ventricular septal defect; Visual impairment
PITPNM317p13.2-p13.99.92%gene with protein product608921CORD5Abnormality of color vision; Abnormality of retinal pigmentation; Autosomal dominant inheritance; Cone/cone-rod dystrophy; Macular degeneration; Nyctalopia; Photophobia; Reduced visual acuity
PPT11p34.2100%gene with protein product600722PPTAbnormality of metabolism/homeostasis; Ataxia; Autosomal recessive inheritance; Blindness; Cerebral atrophy; Decreased light- and dark-adapted electroretinogram amplitude; Depressivity; EEG abnormality; Flexion contracture; Generalized hypotonia; Global developmental delay; Hallucinations; Increased neuronal autofluorescent lipopigment; Intellectual disability; Irritability; Loss of speech; Macular degeneration; Myoclonus; Onset; Optic atrophy; Postnatal microcephaly; Progressive microcephaly; Progressive visual loss; Psychomotor deterioration; Seizures; Sleep disturbance; Spasticity; Undetectable electroretinogram
PRCD17q25.199.86%gene with protein product610598Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Macular degeneration; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Undetectable electroretinogram; 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
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
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
RAX219p13.3100%gene with protein product610362RAXL1Abnormality of color vision; Abnormality of retinal pigmentation; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cone/cone-rod dystrophy; Decreased motor nerve conduction velocity; Distal amyotrophy; Distal muscle weakness; Foot dorsiflexor weakness; Hammertoe; Hyporeflexia; Macular atrophy; Macular degeneration; Nyctalopia; Pes cavus; Photophobia; Progressive; Slow decrease in visual acuity; Spinal muscular atrophy
RAX219p13.3100%gene with protein product610362RAXL1Abnormality of color vision; Abnormality of retinal pigmentation; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cone/cone-rod dystrophy; Decreased motor nerve conduction velocity; Distal amyotrophy; Distal muscle weakness; Foot dorsiflexor weakness; Hammertoe; Hyporeflexia; Macular atrophy; Macular degeneration; Nyctalopia; Pes cavus; Photophobia; Progressive; Slow decrease in visual acuity; Spinal muscular atrophy
RLBP115q26.1100%gene with protein product180090Abnormal electroretinogram; Abnormality of color vision; 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; Fundus albipunctatus; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Macular degeneration; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Retinal dystrophy; Retinal flecks; Scotoma; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge
RPGRXp11.499.06%gene with protein productDue to sequence complexity, sensitivity to variants in the ORF15 region may be limited.312610CRD, RP3, RP15, COD1Abnormal electroretinogram; Abnormality of color vision; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atelectasis; Atypical scarring of skin; Blindness; Cataract; Chronic sinusitis; Conductive hearing impairment; Cone dysfunction syndrome; Cone/cone-rod dystrophy; Dyschromatopsia; Exotropia; Glaucoma; High-frequency hearing impairment; Hyperinsulinemia; Hypermetropia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Macular degeneration; Macular scar; Myopia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Otitis media; Pendular nystagmus; Photophobia; Progressive night blindness; Recurrent bronchitis; Recurrent Haemophilus influenzae infections; Recurrent respiratory infections; Reduced visual acuity; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritanceHeterotaxy
RPGRIP114q11.299.98%gene with protein product605446RPGRIPAbnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of color vision; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Aplasia/Hypoplasia of the cerebellar vermis; Aplasia/Hypoplasia of the iris; Attenuation of retinal blood vessels; Autosomal recessive inheritance; Cataract; Cleft palate; Cone/cone-rod dystrophy; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Full cheeks; Hemiplegia/hemiparesis; High hypermetropia; Hypertelorism; Keratoconus; Lobar holoprosencephaly; Low-set, posteriorly rotated ears; Macular degeneration; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Oligohydramnios; Optic atrophy; Pendular nystagmus; Photophobia; Postaxial foot polydactyly; Postaxial hand polydactyly; Reduced visual acuity; Sclerocornea; Seizures; Severe visual impairment; Sloping forehead; Talipes; Undetectable electroretinogram; Undetectable light- and dark-adapted electroretinogram; Visual impairmentHeterotaxy
SEMA4A1q22100%gene with protein product607292SEMABAbnormal electroretinogram; Abnormality of color vision; Abnormality of retinal pigmentation; Abnormality of skin 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; Cone/cone-rod dystrophy; Epiphora; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Macular degeneration; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Peripheral visual field loss; Photophobia; Progressive night blindness; Progressive visual loss; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
SPG1115q21.199.98%gene with protein product610844KIAA1840Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of the periventricular white matter; Adult onset; Agenesis of corpus callosum; Amyotrophic lateral sclerosis; Ankle clonus; Aplasia/Hypoplasia of the corpus callosum; Ataxia; Autosomal recessive inheritance; Babinski sign; Bulbar signs; Cerebral cortical atrophy; Childhood onset; Cognitive impairment; Decreased muscle mass; Decreased number of peripheral myelinated nerve fibers; Degeneration of the lateral corticospinal tracts; Distal amyotrophy; Distal muscle weakness; Distal peripheral sensory neuropathy; Distal sensory impairment; Dysarthria; Dysphagia; EMG abnormality; Fasciculations; Foot dorsiflexor weakness; Gait disturbance; Gaze-evoked nystagmus; Hyperreflexia; Hypoplasia of the corpus callosum; Impaired vibration sensation in the lower limbs; Intellectual disability; Juvenile onset; Knee clonus; Lower limb muscle weakness; Lower limb spasticity; Macular degeneration; Mental deterioration; Motor polyneuropathy; Nystagmus; Obesity; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Progressive; Pseudobulbar behavioral symptoms; Respiratory insufficiency due to muscle weakness; Saccadic smooth pursuit; Seizures; Sensory neuropathy; Slow progression; Spastic gait; Spastic paraplegia; Spasticity; Specific learning disability; Thenar muscle atrophy; Tip-toe gait; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Ventriculomegaly; Visual impairment
TRAF3IP12q37.3100%gene with protein product607380Abnormality of retinal pigmentation; Autosomal recessive inheritance; Global developmental delay; Hypertension; Macular degeneration; Nephronophthisis; Nystagmus; Premature ovarian insufficiency; Progressive visual loss; Retinal dystrophy; Rod-cone dystrophy; Short stature; Stage 5 chronic kidney disease; Strabismus; Tubulointerstitial nephritis; Visual impairmentObesity
TTC814q31.3100%gene with protein product608132Abnormal electroretinogram; Abnormal light- and dark-adapted electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Brachycephaly; Cataract; Cognitive impairment; Conductive hearing impairment; Glaucoma; Global developmental delay; High myopia; Hyperinsulinemia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypospadias; Intellectual disability; Keratoconus; Macular degeneration; Multicystic kidney dysplasia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Polydactyly; Postaxial hand polydactyly; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Sensorineural hearing impairment; Short stature; Visual impairment; Wide nasal bridgeBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
ZFYVE2614q24.1100%gene with protein product612012SPG15Ataxia; Autosomal recessive inheritance; Babinski sign; Bowel incontinence; Clonus; Distal amyotrophy; Dysarthria; Hypoplasia of the corpus callosum; Intellectual disability; Lower limb muscle weakness; Lower limb spasticity; Macular degeneration; Mood swings; Pes cavus; Phenotypic variability; Progressive; Psychosis; Reduced visual acuity; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Visual impairment


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