XomeDxSlice Tool

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

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Nystagmus-induced head nodding

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
BAZ1B7q11.23100%gene with protein product605681WBSCR9, WBSCR10Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
CLIP27q11.23100%gene with protein product603432WBSCR4, CYLN2, WBSCR3Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
ELN7q11.2399.99%gene with protein product130160Abdominal pain; Abnormality iris morphology; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the face; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Aortic regurgitation; Arrhythmia; Arthralgia; Ascending aortic dissection; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bicuspid aortic valve; Bladder diverticulum; Blepharophimosis; Blue irides; Bowel diverticulosis; Broad forehead; Broad nasal tip; Cardiomegaly; Cerebral ischemia; Chest pain; Chronic constipation; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Coronary artery atherosclerosis; Coronary artery stenosis; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Dental malocclusion; Depressed nasal bridge; Depressivity; Descending aortic dissection; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Emphysema; Enuresis; Epicanthus; Everted lower lip vermilion; Exertional dyspnea; Failure to thrive in infancy; Feeding difficulties in infancy; Flexion contracture; Full cheeks; Gait imbalance; Gastroesophageal reflux; Generalized hypotonia; Genu valgum; Glucose intolerance; Hallux valgus; Heterogeneous; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Impaired visuospatial constructive cognition; Incoordination; Inguinal hernia; Insomnia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Left ventricular failure; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Medial flaring of the eyebrow; Microcephaly; Microdontia; Micrognathia; Midface retrusion; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Narrow forehead; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Obsessive-compulsive trait; Open bite; Open mouth; Osteopenia; Osteoporosis; Overfriendliness; Paroxysmal dyspnea; Pelvic kidney; Periorbital edema; Periorbital fullness; Peripheral arterial stenosis; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Poor coordination; Premature graying of hair; Premature skin wrinkling; Prematurely aged appearance; Proteinuria; Protruding ear; Pulmonary artery stenosis; Pulmonic stenosis; Rectal prolapse; Recurrent otitis media; Recurrent urinary tract infections; Redundant skin; Renal hypoplasia; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Small nail; Soft skin; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Urethral stenosis; Vesicoureteral reflux; Visual impairment; Wide mouth; Wide nasal bridge
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
GTF2I7q11.2358.64%gene with protein product601679WBSCR6Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
GTF2IRD17q11.23100%gene with protein product604318WBSCR11Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
LIMK17q11.2399.5%gene with protein product601329Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
RFC27q11.2399.93%gene with protein product600404Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
TBL27q11.23100%gene with protein product605842Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge


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