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"

If cutting and pasting from another document, please be sure to list EITHER one gene symbol per line OR enter a comma-separated list.


OR

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

What do you want to do?

Place an e-order of this Slice on a specific patient through the GeneDx Portal  
Obtain a Slice ID to order testing with a printed requisition form  
Only email the gene list to myself and/or others at this time  


 
Phenotypes
Paroxysmal involuntary eye movements

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
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
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
SLC2A11p34.2100%gene with protein product138140GLUT1, GLUT, HTLVR, CSEAbnormal erythrocyte morphology; Absence seizures; Absent speech; Ataxia; Autosomal dominant inheritance; Cataract; Choreoathetosis; Confusion; Cyanosis; Delayed myelination; Delayed speech and language development; Dysarthria; Dystonia; EEG abnormality; Encephalopathy; Extrapyramidal dyskinesia; Generalized hyperreflexia; Global developmental delay; Headache; Hemiparesis; Hemolytic anemia; Hepatomegaly; Hyperactive deep tendon reflexes; Hyperreflexia; Hypoglycorrhachia; Inability to walk; Infantile onset; Intellectual disability; Jaundice; Lethargy; Microcephaly; Muscle stiffness; Nystagmus; Paralysis; Paresthesia; Paroxysmal dyskinesia; Paroxysmal involuntary eye movements; Progressive microcephaly; Seizures; Short stature; Spasticity; Splenomegaly; Status epilepticus; Torsion dystoniaHemolytic Anemia


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