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
Nuclear cataract

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
BFSP120p12.1100%gene with protein product603307Autosomal dominant inheritance; Autosomal recessive inheritance; Cortical cataract; Nuclear cataract
CHMP4B20q11.22100%gene with protein product610897C20orf178Anterior subcapsular cataract; Autosomal dominant inheritance; Nuclear cataract; Posterior subcapsular cataract
CRYBB122q12.1100%gene with protein product600929Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Congenital cataract; Microcornea; Myopia; Nuclear cataract; Nystagmus; Pulverulent cataract
CRYBB322q11.2399.98%gene with protein product123630CRYB3Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital cataract; Nuclear cataract
GJA81q21.2100%gene with protein product600897CAE1, CZP1, CAEAutism; Autosomal dominant inheritance; Broad hallux; Broad thumb; Bulbous nose; Cataract; Coarctation of aorta; Congenital cataract; Deeply set eye; Frontal bossing; Incomplete penetrance; Intellectual disability; Microcephaly; Microcornea; Myopia; Nuclear cataract; Patent ductus arteriosus; Posterior subcapsular cataract; Pulverulent cataract; Schizophrenia; Sporadic; Transposition of the great arteries; Truncus arteriosus
HSF416q22.1100%gene with protein product602438CTMAnterior polar cataract; Autosomal dominant inheritance; Lamellar cataract; Nuclear cataract; Pulverulent cataract
WFS14p16.1100%gene with protein product606201DFNA6, DFNA14, DFNA38Abnormality of mesentery morphology; Abnormality of the pinna; Abnormality of the upper urinary tract; Anxiety; Ataxia; Autistic behavior; Autosomal dominant inheritance; Autosomal recessive inheritance; Behavioral abnormality; Cardiomyopathy; Central diabetes insipidus; Cerebral atrophy; Congenital cataract; Congenital sensorineural hearing impairment; Delayed puberty; Dementia; Depressivity; Diabetes insipidus; Diabetes mellitus; Dysarthria; Dysphagia; Dysuria; Feeding difficulties in infancy; Gastrointestinal dysmotility; Glaucoma; Glucose intolerance; Growth delay; Hearing impairment; Hydronephrosis; Hydroureter; Hypothyroidism; Intellectual disability; Limited mobility of proximal interphalangeal joint; Low-frequency sensorineural hearing impairment; Male hypogonadism; Megaloblastic anemia; Nephropathy; Neurogenic bladder; Nuclear cataract; Nystagmus; Optic atrophy; Peripheral axonal neuropathy; Pigmentary retinopathy; Polydipsia; Primary gonadal insufficiency; Progressive cerebellar ataxia; Progressive sensorineural hearing impairment; Psychosis; Ptosis; Recurrent urinary tract infections; Seizures; Sensorineural hearing impairment; Sideroblastic anemia; Stroke-like episode; Testicular atrophy; Thrombocytopenia; TremorDisorders of Sex Development


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