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
Gait ataxia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADSL22q13.1100%gene with protein product608222Abnormal facial shape; Absent speech; Aggressive behavior; Anteverted nares; Autism; Autosomal recessive inheritance; Brachycephaly; Brisk reflexes; Cerebellar atrophy; Cerebral atrophy; Cerebral hypomyelination; CNS hypomyelination; Delayed speech and language development; Flat occiput; Gait ataxia; Generalized hypotonia; Global developmental delay; Growth delay; Hyperactivity; Hypointensity of cerebral white matter on MRI; Inability to walk; Inappropriate laughter; Infantile onset; Intellectual disability; Long philtrum; Low-set ears; Microcephaly; Myoclonus; Nystagmus; Opisthotonus; Poor eye contact; Prominent metopic ridge; Seizures; Self-mutilation; Severe global developmental delay; Short nose; Skeletal muscle atrophy; Smooth philtrum; Strabismus; Thin upper lip vermilion; Wide mouth
AFG3L218p11.2199.9%gene with protein product604581SCA28Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmetric saccades; Dysphagia; Dystonia; Gait ataxia; Gaze-evoked nystagmus; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Increased intramyocellular lipid droplets; Infantile onset; Limb ataxia; Lower limb hyperreflexia; Muscle weakness; Myoclonus; Oculomotor apraxia; Ophthalmoparesis; Progressive; Ptosis; Sensorimotor neuropathy; Skeletal muscle atrophy; Slow progression; Slow saccadic eye movements; Spastic ataxia; Spastic paraparesis; Spasticity; Variable expressivity
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
APTX9p21.1100%gene with protein product606350AXA1Adult onset; Areflexia; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cognitive impairment; Decreased number of large peripheral myelinated nerve fibers; Dementia; Distal amyotrophy; Distal sensory impairment; Dysarthria; Dystonia; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Hypercholesterolemia; Hypoalbuminemia; Hypometric saccades; Hyporeflexia; Juvenile onset; Limb ataxia; Medial flaring of the eyebrow; Muscle weakness; Oculomotor apraxia; Peripheral axonal degeneration; Peripheral neuropathy; Pes cavus; Progressive external ophthalmoplegia; Scoliosis; Tremor; Truncal ataxia
ARCN111q23.3100%gene with protein product600820COPD2-3 toe syndactyly; Accelerated skeletal maturation; Astigmatism; Autosomal dominant inheritance; Cleft palate; Coxa valga; Failure to thrive; Gait ataxia; High palate; Hypospadias; Hypotelorism; Intellectual disability; Intrauterine growth retardation; Metaphyseal widening; Microcephaly; Micrognathia; Micropenis; Motor delay; Myopia; Obstructive sleep apnea; Retrognathia; Rhizomelia; Scaphocephaly; Scrotal hypoplasia; Seizures; Ventricular septal defect
ATCAY19p13.3100%gene with protein product608179Autosomal recessive inheritance; Broad-based gait; Dysarthria; Gait ataxia; Generalized hypotonia; Global developmental delay; Intention tremor; Nystagmus
ATP1A319q13.2100%gene with protein product182350DYT12Anxiety; Areflexia; Ataxia; Autosomal dominant inheritance; Blindness; Bradykinesia; Choreoathetosis; Depressivity; Drooling; Dysarthria; Dysmetria; Dysphagia; Dystonia; Emotional lability; Encephalopathy; Episodic ataxia; Episodic generalized hypotonia; Episodic quadriplegia; Gait ataxia; Global developmental delay; Hemiparesis; Hemiplegia; Hypomimic face; Incomplete penetrance; Intellectual disability; Mental deterioration; Muscle weakness; Mutism; Nystagmus; Optic atrophy; Parkinsonism; Pes cavus; Postural instability; Progressive sensorineural hearing impairment; Progressive visual loss; Sensorineural hearing impairment; Status epilepticus; Torticollis; Truncal ataxia; Unsteady gait; Young adult onset
ATXN1022q13.3199.98%gene with protein productXomeDxSlice is not appropriate for indications of ataxia; however will be accepted for indications of kidney disease.611150SCA10Abnormal pyramidal signs; Abnormality of extrapyramidal motor function; Autosomal dominant inheritance; Cerebellar atrophy; Decreased nerve conduction velocity; Dementia; Depressivity; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Gait ataxia; Genetic anticipation; Hyperreflexia; Incomplete penetrance; Incoordination; Limb ataxia; Morphological abnormality of the pyramidal tract; Nystagmus; Progressive cerebellar ataxia; Scanning speech; Seizures; Urinary incontinence; Urinary urgency
BEAN116q21100%gene with protein productXomeDxSlice is not appropriate.612051SCA31Ataxia; Autosomal dominant inheritance; Cerebellar atrophy; Dysarthria; Gait ataxia; Gaze-evoked horizontal nystagmus; Late onset; Limb ataxia
CAV17q31.2100%gene with protein product601047CAVAbnormality of skin pigmentation; Abnormality of the face; Absence of subcutaneous fat; Acanthosis nigricans; Accelerated skeletal maturation; Arthralgia; Arthritis; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bone cyst; Broad foot; Carious teeth; Clonus; Congenital cataract; Decreased adipose tissue around neck; Diabetes mellitus; Distal sensory impairment; Dysmetria; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hepatosplenomegaly; Hirsutism; Hypercholesterolemia; Hyperhidrosis; Hyperinsulinemia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Hypocalcemia; Hypopigmented skin patches; Incomplete penetrance; Increased pulmonary vascular resistance; Insulin resistance; Intellectual disability; Lack of facial subcutaneous fat; Large hands; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Lower limb muscle weakness; Malabsorption; Mandibular prognathia; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Nystagmus; Oliguria; Orthostatic hypotension; Osteolysis; Pancreatitis; Pigmentary retinopathy; Precocious puberty; Prominent supraorbital ridges; Pulmonary arterial hypertension; Pulmonary fibrosis; Pulmonary infiltrates; Reduced subcutaneous adipose tissue; Short stature; Skeletal muscle hypertrophy; Skin ulcer; Telangiectasia of the skin; Variable expressivity; Xerostomia
CHAMP113q34100%gene with protein product616327C13orf8, ZNF828Autosomal dominant inheritance; Congenital onset; Epicanthus; Everted lower lip vermilion; Facial hypotonia; Feeding difficulties; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High palate; Hypermetropia; Impaired pain sensation; Intellectual disability; Joint hypermobility; Long face; Low-set ears; Microcephaly; Open mouth; Pointed chin; Recurrent respiratory infections; Short philtrum; Stereotypy; Strabismus; Tented upper lip vermilion; Upslanted palpebral fissure
CLCN23q27.1100%gene with protein product600570Autosomal recessive inheritance; Gait ataxia; Headache; Leukoencephalopathy; Limb ataxia
DKK110q21.1100%gene with protein product605189Abnormality of the clivus; Abnormality of the eleventh cranial nerve; Abnormality of the twelfth cranial nerve; Abnormality of the vestibulocochlear nerve; Anteriorly placed odontoid process; Areflexia of upper limbs; Arnold-Chiari type I malformation; Bone pain; Cervical C2/C3 vertebral fusion; Cranial nerve compression; Cranial nerve paralysis; Distal peripheral sensory neuropathy; Dysesthesia; Dysphagia; Gait ataxia; Gait disturbance; Increased intracranial pressure; Lower limb hyperreflexia; Myelopathy; Neck pain; Nystagmus; Osteoporosis; Progressive cerebellar ataxia; Recurrent fractures; Recurrent paroxysmal headache; Scoliosis; Sensory impairment; Small posterior fossa; Stiff neck; Syringomyelia; Tinnitus; Vertebral compression fractures; Vertigo; Vocal cord paralysis
DNAJC313q32.1100%gene with protein product601184PRKRIAtrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Gait ataxia; Sensorineural hearing impairment; Short stature; Type I diabetes mellitus
DNAJC61p31.3100%gene with protein product608375Abnormal pyramidal signs; Akinesia; Autosomal recessive inheritance; Bradykinesia; Brain atrophy; Cognitive impairment; Dysarthria; Dystonia; Fatigue; Gait ataxia; Hallucinations; Hypomimic face; Hyporeflexia; Inability to walk; Intellectual disability; Leg muscle stiffness; Parkinsonism; Pes cavus; Postural instability; Rapidly progressive; Resting tremor; Rigidity; Scoliosis; Seizures; Short stepped shuffling gait; Shuffling gait; Slow progression; Slowed slurred speech; Spasticity; Tremor; Weak voice
EEF219p13.3100%gene with protein product130610EF2Adult onset; Autosomal dominant inheritance; Cerebellar atrophy; Dysarthria; Dysmetric saccades; Gait ataxia; Impaired horizontal smooth pursuit; Incoordination; Limb ataxia; Nystagmus; Progressive cerebellar ataxia; Progressive gait ataxia; Slow progression; Truncal ataxia
EIF2S3Xp22.11100%gene with protein product300161EIF2GAggressive behavior; Agitation; Babinski sign; Broad nasal tip; Cleft lip; Cleft palate; Cryptorchidism; Delayed puberty; Delayed speech and language development; Depressed nasal tip; Difficulty walking; Downturned corners of mouth; Drooling; EEG abnormality; Full cheeks; Gait ataxia; Generalized hypotonia; Global developmental delay; Growth delay; Growth hormone deficiency; Hyperreflexia; Hypertonia; Hypoglycemia; Hypogonadism; Hypoplasia of the corpus callosum; Inability to walk; Intellectual disability; Intellectual disability, severe; Large earlobe; Long face; Long philtrum; Macrotia; Microcephaly; Micropenis; Muscular hypotonia; Myopia; Nystagmus; Obesity; Open mouth; Poor speech; Round face; Seizures; Severe global developmental delay; Short stature; Sloping forehead; Spastic tetraparesis; Strabismus; Talipes equinovarus; Tall chin; Tapered finger; Thick vermilion border; Variable expressivity; Ventriculomegaly; Widely spaced teeth; X-linked recessive inheritanceObesity
ELOVL56p12.1100%gene with protein product611805SCA38Autosomal dominant inheritance; Cerebellar atrophy; Dysarthria; Gait ataxia; Limb ataxia; Nystagmus; Slow progression; Slow saccadic eye movements
ERMARD6q27100%gene with protein product615532C6orf70Abnormal facial shape; Autosomal dominant inheritance; Cerebellar hypoplasia; Colpocephaly; Delayed speech and language development; Dysmetria; Failure to thrive; Gait ataxia; Global developmental delay; Heterotopia; High, narrow palate; Hypermetropia; Hypertelorism; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile muscular hypotonia; Intellectual disability, mild; Joint laxity; Low anterior hairline; Low-set, posteriorly rotated ears; Micrognathia; Nystagmus; Periventricular gray matter heterotopia; Polymicrogyria; Seizures; Strabismus; Thick vermilion border
FMR1Xq27.399.84%gene with protein productXomeDxSlice is not appropriate.309550POF1, POFAbnormal head movements; Abnormality of metabolism/homeostasis; Adult onset; Anxiety; Attention deficit hyperactivity disorder; Autism; Bowel incontinence; Bradykinesia; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Chronic otitis media; Coarse facial features; Congenital macroorchidism; Cryptorchidism; Decreased testicular size; Deeply set eye; Delayed skeletal maturation; Dementia; Depressivity; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Disinhibition; Dysarthria; Dysautonomia; Dysdiadochokinesis; Dysesthesia; Dysmetria; Failure to thrive; Folate-dependent fragile site at Xq28; Frontal bossing; Gait ataxia; Gastroesophageal reflux; Global developmental delay; Gynecomastia; Hearing impairment; High pitched voice; Hyperactivity; Hypogonadism; Hyporeflexia; Hypothyroidism; Impaired distal vibration sensation; Impotence; Incomplete penetrance; Increased circulating gonadotropin level; Inertia; Intellectual disability, mild; Intellectual disability, moderate; Intention tremor; Intrauterine growth retardation; Joint laxity; Large forehead; Long face; Macrocephaly; Macroorchidism; Macroorchidism, postpubertal; Macrotia; Mandibular prognathia; Mask-like facies; Memory impairment; Menstrual irregularities; Mitral valve prolapse; Muscle weakness; Muscular hypotonia; Myalgia; Narrow face; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Obsessive-compulsive trait; Parkinsonism; Pectus excavatum; Periventricular gray matter heterotopia; Pes planus; Pollakisuria; Poor eye contact; Poor fine motor coordination; Postural tremor; Premature ovarian insufficiency; Protruding ear; Resting tremor; Rigidity; Saccadic smooth pursuit; Scoliosis; Seizures; Short foot; Short stature; Sinusitis; Small hand; Sparse body hair; Thin vermilion border; Truncal obesity; Urinary bladder sphincter dysfunction; Urinary incontinence; X-linked dominant inheritance; X-linked inheritance
FMR1Xq27.399.84%gene with protein productXomeDxSlice is not appropriate.309550POF1, POFAbnormal head movements; Abnormality of metabolism/homeostasis; Adult onset; Anxiety; Attention deficit hyperactivity disorder; Autism; Bowel incontinence; Bradykinesia; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Chronic otitis media; Coarse facial features; Congenital macroorchidism; Cryptorchidism; Decreased testicular size; Deeply set eye; Delayed skeletal maturation; Dementia; Depressivity; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Disinhibition; Dysarthria; Dysautonomia; Dysdiadochokinesis; Dysesthesia; Dysmetria; Failure to thrive; Folate-dependent fragile site at Xq28; Frontal bossing; Gait ataxia; Gastroesophageal reflux; Global developmental delay; Gynecomastia; Hearing impairment; High pitched voice; Hyperactivity; Hypogonadism; Hyporeflexia; Hypothyroidism; Impaired distal vibration sensation; Impotence; Incomplete penetrance; Increased circulating gonadotropin level; Inertia; Intellectual disability, mild; Intellectual disability, moderate; Intention tremor; Intrauterine growth retardation; Joint laxity; Large forehead; Long face; Macrocephaly; Macroorchidism; Macroorchidism, postpubertal; Macrotia; Mandibular prognathia; Mask-like facies; Memory impairment; Menstrual irregularities; Mitral valve prolapse; Muscle weakness; Muscular hypotonia; Myalgia; Narrow face; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Obsessive-compulsive trait; Parkinsonism; Pectus excavatum; Periventricular gray matter heterotopia; Pes planus; Pollakisuria; Poor eye contact; Poor fine motor coordination; Postural tremor; Premature ovarian insufficiency; Protruding ear; Resting tremor; Rigidity; Saccadic smooth pursuit; Scoliosis; Seizures; Short foot; Short stature; Sinusitis; Small hand; Sparse body hair; Thin vermilion border; Truncal obesity; Urinary bladder sphincter dysfunction; Urinary incontinence; X-linked dominant inheritance; X-linked inheritance
FXN9q21.11100%gene with protein productXomeDxSlice can detect sequencing variants but not repeat expansions in this gene.606829FRDAAbnormal echocardiogram; Abnormal EKG; Abnormality of visual evoked potentials; Areflexia of lower limbs; Autosomal recessive inheritance; Babinski sign; Cardiomyopathy; Cervical spinal cord atrophy; Congestive heart failure; Decreased amplitude of sensory action potentials; Decreased pyruvate carboxylase activity; Decreased sensory nerve conduction velocity; Diabetes mellitus; Dysarthria; Dysmetria; Falls; Gait ataxia; Gait imbalance; Hand muscle atrophy; Hypertrophic cardiomyopathy; Impaired proprioception; Impaired vibratory sensation; Impaired visually enhanced vestibulo-ocular reflex; Intention tremor; Juvenile onset; Limb ataxia; Mitochondrial malic enzyme reduced; Muscle weakness; Nystagmus; Optic atrophy; Pes cavus; Poor fine motor coordination; Scoliosis; Sensory axonal neuropathy; Sensory neuropathy; Urinary bladder sphincter dysfunction; Visual field defect
FXN9q21.11100%gene with protein productXomeDxSlice can detect sequencing variants but not repeat expansions in this gene.606829FRDAAbnormal echocardiogram; Abnormal EKG; Abnormality of visual evoked potentials; Areflexia of lower limbs; Autosomal recessive inheritance; Babinski sign; Cardiomyopathy; Cervical spinal cord atrophy; Congestive heart failure; Decreased amplitude of sensory action potentials; Decreased pyruvate carboxylase activity; Decreased sensory nerve conduction velocity; Diabetes mellitus; Dysarthria; Dysmetria; Falls; Gait ataxia; Gait imbalance; Hand muscle atrophy; Hypertrophic cardiomyopathy; Impaired proprioception; Impaired vibratory sensation; Impaired visually enhanced vestibulo-ocular reflex; Intention tremor; Juvenile onset; Limb ataxia; Mitochondrial malic enzyme reduced; Muscle weakness; Nystagmus; Optic atrophy; Pes cavus; Poor fine motor coordination; Scoliosis; Sensory axonal neuropathy; Sensory neuropathy; Urinary bladder sphincter dysfunction; Visual field defect
GCH114q22.297.74%gene with protein product600225GCH, DYT5, DYT14Abnormality of eye movement; Abnormality of the substantia nigra; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Brisk reflexes; Childhood onset; Choreoathetosis; Decreased CSF homovanillic acid; Depressivity; Dysphagia; Dystonia; Episodic fever; Excessive salivation; Fatigue; Gait ataxia; Global developmental delay; Hearing impairment; Heterogeneous; Hyperkinesis; Hyperphenylalaninemia; Hyperreflexia; Infantile onset; Intellectual disability, progressive; Irritability; Lethargy; Limb dystonia; Limb hypertonia; Lower limb hyperreflexia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Pes cavus; Phenotypic variability; Postural tremor; Progressive neurologic deterioration; Rigidity; Scoliosis; Seizures; Severe muscular hypotonia; Sleep disturbance; Talipes equinovarus; Torticollis; Transient hyperphenylalaninemia; Tremor; Variable expressivity
GCH114q22.297.74%gene with protein product600225GCH, DYT5, DYT14Abnormality of eye movement; Abnormality of the substantia nigra; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Brisk reflexes; Childhood onset; Choreoathetosis; Decreased CSF homovanillic acid; Depressivity; Dysphagia; Dystonia; Episodic fever; Excessive salivation; Fatigue; Gait ataxia; Global developmental delay; Hearing impairment; Heterogeneous; Hyperkinesis; Hyperphenylalaninemia; Hyperreflexia; Infantile onset; Intellectual disability, progressive; Irritability; Lethargy; Limb dystonia; Limb hypertonia; Lower limb hyperreflexia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Pes cavus; Phenotypic variability; Postural tremor; Progressive neurologic deterioration; Rigidity; Scoliosis; Seizures; Severe muscular hypotonia; Sleep disturbance; Talipes equinovarus; Torticollis; Transient hyperphenylalaninemia; Tremor; Variable expressivity
GRID24q22.1-q22.2100%gene with protein product602368Autosomal recessive inheritance; Cerebellar atrophy; Cognitive impairment; Dysarthria; Dysdiadochokinesis; Dysmetria; Esotropia; Gait ataxia; Generalized hypotonia; Global developmental delay; Incoordination; Infantile onset; Nystagmus; Oculomotor apraxia; Poor speech; Truncal ataxia
HERC115q22.31100%gene with protein product605109Arachnodactyly; Autosomal recessive inheritance; Congenital onset; Downslanted palpebral fissures; Frontal bossing; Gait ataxia; Generalized hypotonia; Global developmental delay; High palate; Hyperlordosis; Hypertelorism; Intellectual disability; Joint laxity; Kyphosis; Large hands; Long face; Long foot; Long neck; Low-set ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Pes planus; Posteriorly rotated ears; Prominent forehead; Prominent nasal bridge; Proptosis; Scoliosis; Sparse eyebrow; Tall stature; Triangular face; Upslanted palpebral fissure; Ventriculomegaly
HSD17B45q23.199.97%gene with protein product601860Abnormal facial shape; Aplasia/Hypoplasia of the cerebellum; Autosomal recessive inheritance; Bile duct proliferation; Calcific stippling; Cerebral dysmyelination; Cholestasis; Corpus callosum atrophy; Cortical dysplasia; Decreased muscle mass; Delayed cranial suture closure; Delayed skeletal maturation; Depressed nasal bridge; Elevated hepatic transaminases; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Fetal ascites; Frontal bossing; Gait ataxia; Generalized cerebral atrophy/hypoplasia; Gliosis; Global developmental delay; Gonadal dysgenesis; Hammertoe; Hepatic steatosis; Hepatomegaly; High forehead; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Increased circulating gonadotropin level; Infantile onset; Large fontanelles; Limited extraocular movements; Long philtrum; Low-set ears; Macrocephaly; Micrognathia; Neonatal hypotonia; Nystagmus; Osteopenia; Osteoporosis; Pectus excavatum; Pes cavus; Phenotypic variability; Polyhydramnios; Polymicrogyria; Primary adrenal insufficiency; Primary amenorrhea; Renal cyst; Retrognathia; Scaphocephaly; Scoliosis; Seizures; Sensorineural hearing impairment; Short stature; Split hand; Strabismus; Talipes equinovarus; Thoracic hypoplasia; Undetectable electroretinogram; Upslanted palpebral fissure; Ventriculomegaly; Visual impairment; Visual loss
HTT4p16.399.7%gene with protein productXomeDxSlice is not appropriate.613004HDAbnormality of eye movement; Abnormality of movement; Abnormality of the voice; Autosomal dominant inheritance; Behavioral abnormality; Bradykinesia; Cerebellar atrophy; Cerebral cortical atrophy; Chorea; Dementia; Depressivity; Developmental regression; EEG abnormality; Gait ataxia; Gliosis; Hyperreflexia; Neuronal loss in central nervous system; Personality changes; Seizures; Spasticity
KCNC319q13.3389.93%gene with protein product176264SCA13Abnormal pyramidal signs; Autosomal dominant inheritance; Cerebellar atrophy; Dysarthria; Gait ataxia; Generalized hypotonia; Hyperreflexia; Intellectual disability; Jerky ocular pursuit movements; Limb ataxia; Limb dysmetria; Morphological abnormality of the pyramidal tract; Motor delay; Nystagmus; Optic atrophy; Progressive cerebellar ataxia; Slow progression
KCND31p13.2100%gene with protein product605411SCA22, SCA19Autosomal dominant inheritance; Cerebellar atrophy; Dysarthria; Dysphagia; Gait ataxia; Gaze-evoked horizontal nystagmus; Hyporeflexia; Intermittent microsaccadic pursuits; Limb ataxia; Myoclonus; Palpitations; Postural tremor; Progressive cerebellar ataxia; Slow progression; Truncal ataxia
KIF1C17p13.2100%gene with protein product603060SAX2Abnormality of the cerebral white matter; Autosomal recessive inheritance; Babinski sign; Chorea; Clonus; Distal amyotrophy; Dysarthria; Dysmetria; Erratic myoclonus; Fasciculations; Frequent falls; Gait ataxia; Head titubation; Horizontal nystagmus; Hyperreflexia; Hypodontia; Lower limb hyperreflexia; Microcephaly; Peripheral demyelination; Progressive; Short stature; Spastic ataxia; Spasticity; Titubation
KIF1C17p13.2100%gene with protein product603060SAX2Abnormality of the cerebral white matter; Autosomal recessive inheritance; Babinski sign; Chorea; Clonus; Distal amyotrophy; Dysarthria; Dysmetria; Erratic myoclonus; Fasciculations; Frequent falls; Gait ataxia; Head titubation; Horizontal nystagmus; Hyperreflexia; Hypodontia; Lower limb hyperreflexia; Microcephaly; Peripheral demyelination; Progressive; Short stature; Spastic ataxia; Spasticity; Titubation
LMNB219p13.3100%gene with protein product150341LMN2Autoimmunity; Autosomal recessive inheritance; Decreased serum complement C3; Gait ataxia; Generalized amyotrophy; Global developmental delay; Hearing impairment; Intellectual disability; Lipoatrophy; Lymphocytosis; Microglossia; Myoclonus; Myopathy; Progeroid facial appearance; Progressive; Scoliosis; Seizures; Short thumb; Status epilepticus; Ventriculomegaly
MAN2B119p13.1399.99%gene with protein product609458MANBAbnormality of the rib cage; Autosomal recessive inheritance; Babinski sign; Broad forehead; Cerebellar atrophy; Cerebral atrophy; Coarse facial features; Decreased antibody level in blood; Delayed myelination; Depressed nasal ridge; Dysarthria; Dysostosis multiplex; Epicanthus; Femoral bowing; Flat occiput; Frontal bossing; Gait ataxia; Generalized hypotonia; Gingival overgrowth; Gliosis; Global developmental delay; Growth delay; Hepatomegaly; Hyperreflexia; Hypertrichosis; Impaired smooth pursuit; Increased vertebral height; Inguinal hernia; Intellectual disability; Limb ataxia; Low anterior hairline; Macrocephaly; Macroglossia; Macrotia; Malar flattening; Mandibular prognathia; Midface retrusion; Nystagmus; Pectus carinatum; Progressive retinal degeneration; Recurrent bacterial infections; Sensorineural hearing impairment; Spasticity; Spinocerebellar tract disease in lower limbs; Splenomegaly; Spondylolisthesis; Thick eyebrow; Thickened calvaria; Thoracolumbar kyphosis; Vacuolated lymphocytes; Widely spaced teeth
MARS22q33.1100%gene with protein product609728Anteverted nares; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Cognitive impairment; Congenital onset; Depressed nasal bridge; Dysmetria; Dystonia; Feeding difficulties; Gait ataxia; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hearing impairment; Horizontal nystagmus; Hyperreflexia; Long philtrum; Low-set ears; Mild hearing impairment; Pectus carinatum; Short nose; Short stature; Spastic ataxia; Spasticity; Wide nasal bridge
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
MME3q25.299.96%gene with protein product120520Adult onset; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Distal amyotrophy; Distal sensory impairment; Dysarthria; Foot dorsiflexor weakness; Gait ataxia; Hyporeflexia; Limb ataxia; Pes cavus; Slow progression; Tremor; Unsteady gait
MPZ1q23.3100%gene with protein product159440CMT1, CMT1BAbnormality of the cranial nerves; Abnormality of the eye; Abnormality of the immune system; Abnormality of the respiratory system; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration/regeneration; Cold-induced muscle cramps; Congenital onset; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysphagia; Foot dorsiflexor weakness; Gait ataxia; Gait disturbance; Generalized hypotonia; Hammertoe; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Insidious onset; Juvenile onset; Kyphoscoliosis; Motor delay; Myelin outfoldings; Neonatal hypotonia; Onion bulb formation; Peripheral demyelination; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Progressive sensorineural hearing impairment; Segmental peripheral demyelination/remyelination; Sensorineural hearing impairment; Sensory ataxia; Slow progression; Split hand; Steppage gait; Tonic pupil; Ulnar claw; Upper limb muscle weakness; Upper limb postural tremor; Variable expressivity
MRE1111q2199.94%gene with protein productFormer name = MRE11A600814MRE11AAbnormality of the fallopian tube; Autosomal recessive inheritance; Breast carcinoma; Cerebellar atrophy; Chorea; Distal amyotrophy; Dysarthria; Dysdiadochokinesis; Dystonia; Frequent falls; Gait ataxia; Gaze-evoked nystagmus; Hypometric saccades; Hyporeflexia; Impaired smooth pursuit; Lower limb spasticity; Oculomotor apraxia; Ovarian neoplasm; Primary peritoneal carcinoma; Progressive; Telangiectasia; Variable expressivityAutoimmune Disorders ; Heterotaxy
NOP5620p13100%gene with protein productXomeDxSlice is not appropriate.614154NOL5AAutosomal dominant inheritance; Babinski sign; Cerebellar atrophy; Dysarthria; Gait ataxia; Hyperreflexia; Impaired smooth pursuit; Incoordination; Limb ataxia; Progressive; Slow saccadic eye movements; Tongue atrophy; Tongue fasciculations
OPHN1Xq1299.97%gene with protein product300127MRX60Attention deficit hyperactivity disorder; Autism; Cerebellar hypoplasia; Cryptorchidism; Deeply set eye; Delayed speech and language development; Disorganization of the anterior cerebellar vermis; Dysmetria; Enlarged cisterna magna; Frontal bossing; Gait ataxia; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypotelorism; Infantile onset; Intellectual disability; Long face; Long nose; Macrocephaly; Macrotia; Mandibular prognathia; Micropenis; Microphallus; Muscular hypotonia; Neurological speech impairment; Nystagmus; Prominent forehead; Prominent supraorbital ridges; Retrocerebellar cyst; Scrotal hypoplasia; Seizures; Short philtrum; Spasticity; Strabismus; Thin upper lip vermilion; X-linked recessive inheritanceDisorders of Sex Development
PDP18q22.1100%gene with protein product605993PPM2CAutosomal recessive inheritance; Decreased activity of the pyruvate dehydrogenase complex; Dysphagia; Gait ataxia; Generalized hypotonia; Global developmental delay; Infantile onset; Intellectual disability; Lactic acidosis; Nystagmus; Seizures
PDYN20p13100%gene with protein product131340SCA23Autosomal dominant inheritance; Babinski sign; Cerebellar atrophy; CNS demyelination; Dysarthria; Dysmetria; Gait ataxia; Hyperreflexia; Impaired vibration sensation in the lower limbs; Limb ataxia; Neuronal loss in central nervous system; Sensorimotor neuropathy; Slow progression; Slow saccadic eye movements
PLA2G622q13.1100%gene with protein product603604Abnormal pyramidal signs; Abnormality of metabolism/homeostasis; Abnormality of visual evoked potentials; Aggressive behavior; Ataxia; Autosomal recessive inheritance; Babinski sign; Bradykinesia; Cachexia; Cerebellar atrophy; Cerebral atrophy; Childhood onset; Chorea; Clumsiness; Delayed speech and language development; Depressivity; Developmental regression; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Elevated serum creatine phosphokinase; EMG: chronic denervation signs; Emotional lability; Feeding difficulties; Frontal bossing; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized hypotonia; Generalized muscle weakness; Gliosis; Global brain atrophy; Global developmental delay; Hearing impairment; Hyperactivity; Hyperreflexia; Impaired smooth pursuit; Impulsivity; Infantile onset; Intellectual disability; Intention tremor; Mental deterioration; Micrognathia; Morphological abnormality of the pyramidal tract; Muscular hypotonia; Neurodegeneration; Neurofibrillary tangles; Neuronal loss in central nervous system; Nystagmus; Optic atrophy; Parkinsonism; Personality changes; Phenotypic variability; Postural instability; Progressive; Prominent forehead; Rapidly progressive; Rigidity; Seizures; Short attention span; Short nose; Spastic tetraplegia; Spasticity; Strabismus; Supranuclear gaze palsy; Talipes calcaneovalgus; Tremor; Unsteady gait; Visual impairment; Visual loss
PMP2217p12100%gene with protein product601097Abnormality of the immune system; Acute demyelinating polyneuropathy; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Childhood onset; Cold-induced muscle cramps; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Foot dorsiflexor weakness; Gait ataxia; Gait disturbance; Generalized hypotonia; Hammertoe; Hearing impairment; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Insidious onset; Juvenile onset; Kyphoscoliosis; Motor delay; Muscle weakness; Myelin outfoldings; Onion bulb formation; Paresthesia; Pes cavus; Scoliosis; Segmental peripheral demyelination/remyelination; Sensorineural hearing impairment; Sensory ataxia; Slow progression; Split hand; Steppage gait; Talipes calcaneovalgus; Ulnar claw; Upper limb postural tremor; Variable expressivity; Vocal cord paralysis
PMPCA9q34.3100%gene with protein product613036INPP5EAbnormality of the retinal vasculature; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Cataract; Cerebellar hypoplasia; Delayed speech and language development; Dysarthria; Dysmetria; Gait ataxia; Gait disturbance; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Hyperreflexia; Incoordination; Infantile onset; Intellectual disability; Limb ataxia; Malabsorption; Muscular hypotonia; Nonprogressive; Nystagmus; Ocular albinism; Saccadic smooth pursuit; Scoliosis; Spasticity; Tremor; Unsteady gait; White hair
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
PPP1R15B1q32.1100%gene with protein product613257Abnormal vertebral morphology; Autosomal recessive inheritance; Brisk reflexes; Delayed puberty; Dysarthria; Fine hair; Gait ataxia; Hearing impairment; High pitched voice; Intellectual disability, severe; Intrauterine growth retardation; Kinetic tremor; Kyphoscoliosis; Microcephaly; Oligodontia; Pectus excavatum; Phenotypic variability; Recurrent hypoglycemia; Seizures; Short stature; Small for gestational age; Sparse hair; Spasticity
PRKCG19q13.42100%gene with protein product176980PKCG, SCA14Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Cerebellar atrophy; Depressivity; Dysarthria; Dysmetria; Dysphagia; Facial myokymia; Focal dystonia; Gait ataxia; Hyperreflexia; Impaired vibration sensation at ankles; Incomplete penetrance; Memory impairment; Mental deterioration; Nystagmus; Progressive cerebellar ataxia; Slow progression
PRNP20p13100%gene with protein product176640PRIP, GSS, CJDAbdominal symptom; Adult onset; Aggressive behavior; Akinetic mutism; Anxiety; Apathy; Aphasia; Apnea; Apraxia; Areflexia; Astrocytosis; Ataxia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Babinski sign; Basal ganglia gliosis; Bradykinesia; Central nervous system degeneration; Cerebellar atrophy; Childhood onset; Chorea; Clumsiness; Confusion; Constipation; Deficit in phonologic short-term memory; Delusions; Dementia; Depressivity; Diffuse spongiform leukoencephalopathy; Diplopia; Dysarthria; Dysautonomia; Dysmetria; Dysphagia; EEG with persistent abnormal rhythmic activity; Emotional lability; Encephalopathy; Extrapyramidal muscular rigidity; Fever; Focal T2 hyperintense basal ganglia lesion; Gait ataxia; Gliosis; Global brain atrophy; Hallucinations; Hemiparesis; Hyperhidrosis; Hyperreflexia; Hypersomnia; Impaired smooth pursuit; Incoordination; Insomnia; Irritability; Jaw pain; Limb ataxia; Loss of facial expression; Lower limb muscle weakness; Memory impairment; Muscle weakness; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perseveration; Personality changes; Phenotypic variability; Poor visual behavior for age; Progressive cerebellar ataxia; Progressive extrapyramidal muscular rigidity; Progressive forgetfulness; Psychosis; Rapidly progressive; Restlessness; Rigidity; Seizures; Senile plaques; Short attention span; Sleep disturbance; Slurred speech; Spastic dysarthria; Spastic hemiparesis; Spasticity; Specific learning disability; Stroke-like episode; Supranuclear gaze palsy; Tremor; Truncal ataxia; Unsteady gait; Urinary retention; Visual impairment; Weight loss
PRNP20p13100%gene with protein product176640PRIP, GSS, CJDAbdominal symptom; Adult onset; Aggressive behavior; Akinetic mutism; Anxiety; Apathy; Aphasia; Apnea; Apraxia; Areflexia; Astrocytosis; Ataxia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Babinski sign; Basal ganglia gliosis; Bradykinesia; Central nervous system degeneration; Cerebellar atrophy; Childhood onset; Chorea; Clumsiness; Confusion; Constipation; Deficit in phonologic short-term memory; Delusions; Dementia; Depressivity; Diffuse spongiform leukoencephalopathy; Diplopia; Dysarthria; Dysautonomia; Dysmetria; Dysphagia; EEG with persistent abnormal rhythmic activity; Emotional lability; Encephalopathy; Extrapyramidal muscular rigidity; Fever; Focal T2 hyperintense basal ganglia lesion; Gait ataxia; Gliosis; Global brain atrophy; Hallucinations; Hemiparesis; Hyperhidrosis; Hyperreflexia; Hypersomnia; Impaired smooth pursuit; Incoordination; Insomnia; Irritability; Jaw pain; Limb ataxia; Loss of facial expression; Lower limb muscle weakness; Memory impairment; Muscle weakness; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perseveration; Personality changes; Phenotypic variability; Poor visual behavior for age; Progressive cerebellar ataxia; Progressive extrapyramidal muscular rigidity; Progressive forgetfulness; Psychosis; Rapidly progressive; Restlessness; Rigidity; Seizures; Senile plaques; Short attention span; Sleep disturbance; Slurred speech; Spastic dysarthria; Spastic hemiparesis; Spasticity; Specific learning disability; Stroke-like episode; Supranuclear gaze palsy; Tremor; Truncal ataxia; Unsteady gait; Urinary retention; Visual impairment; Weight loss
PRNP20p13100%gene with protein product176640PRIP, GSS, CJDAbdominal symptom; Adult onset; Aggressive behavior; Akinetic mutism; Anxiety; Apathy; Aphasia; Apnea; Apraxia; Areflexia; Astrocytosis; Ataxia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Babinski sign; Basal ganglia gliosis; Bradykinesia; Central nervous system degeneration; Cerebellar atrophy; Childhood onset; Chorea; Clumsiness; Confusion; Constipation; Deficit in phonologic short-term memory; Delusions; Dementia; Depressivity; Diffuse spongiform leukoencephalopathy; Diplopia; Dysarthria; Dysautonomia; Dysmetria; Dysphagia; EEG with persistent abnormal rhythmic activity; Emotional lability; Encephalopathy; Extrapyramidal muscular rigidity; Fever; Focal T2 hyperintense basal ganglia lesion; Gait ataxia; Gliosis; Global brain atrophy; Hallucinations; Hemiparesis; Hyperhidrosis; Hyperreflexia; Hypersomnia; Impaired smooth pursuit; Incoordination; Insomnia; Irritability; Jaw pain; Limb ataxia; Loss of facial expression; Lower limb muscle weakness; Memory impairment; Muscle weakness; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perseveration; Personality changes; Phenotypic variability; Poor visual behavior for age; Progressive cerebellar ataxia; Progressive extrapyramidal muscular rigidity; Progressive forgetfulness; Psychosis; Rapidly progressive; Restlessness; Rigidity; Seizures; Senile plaques; Short attention span; Sleep disturbance; Slurred speech; Spastic dysarthria; Spastic hemiparesis; Spasticity; Specific learning disability; Stroke-like episode; Supranuclear gaze palsy; Tremor; Truncal ataxia; Unsteady gait; Urinary retention; Visual impairment; Weight loss
PSAP10q22.199.99%gene with protein product176801SAP1, GLBAAbnormality of eye movement; Abnormality of glycosphingolipid metabolism; Abnormality of the periventricular white matter; Anemia; Autosomal recessive inheritance; Babinski sign; Central apnea; Cerebral dysmyelination; CNS demyelination; Congenital onset; Death in childhood; Death in infancy; Decreased nerve conduction velocity; Developmental regression; Dysarthria; Dysphagia; Dystonia; Erlenmeyer flask deformity of the femurs; Fasciculations; Feeding difficulties; Gait ataxia; Generalized clonic seizures; Generalized hypotonia; Generalized tonic-clonic seizures; Global brain atrophy; Global developmental delay; Hepatomegaly; Hepatosplenomegaly; Hyperkinesis; Hyperreflexia; Hypertonia; Hypoplasia of the corpus callosum; Hyporeflexia; Increased cerebral lipofuscin; Increased CSF protein; Infantile onset; Loss of speech; Mental deterioration; Muscle weakness; Muscular hypotonia; Myoclonus; Neuronal loss in central nervous system; Osteopenia; Peripheral demyelination; Polyneuropathy; Recurrent respiratory infections; Respiratory failure; Respiratory insufficiency; Seizures; Spastic tetraparesis; Splenomegaly; Thrombocytopenia; Urinary incontinence; Variable expressivity
RRM2B8q22.399.95%gene with protein product604712Abdominal distention; Abdominal pain; Abnormality of retinal pigmentation; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Aminoaciduria; Anterior hypopituitarism; Ataxia; Atrophic muscularis propria; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Demyelinating peripheral neuropathy; Depressivity; Diarrhea; Distal muscle weakness; Dysarthria; Dysphagia; Easy fatigability; Elevated hepatic transaminases; EMG abnormality; Exercise intolerance; External ophthalmoplegia; Failure to thrive; Feeding difficulties; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Hearing impairment; Hyperalaninemia; Increased CSF protein; Increased muscle fatiguability; Intellectual disability; Lactic acidosis; Leukoencephalopathy; Multiple mitochondrial DNA deletions; Muscular hypotonia; Nausea; Paresthesia; Peripheral axonal neuropathy; Poor appetite; Progressive; Progressive external ophthalmoplegia; Progressive intervertebral space narrowing; Progressive neurologic deterioration; Proximal tubulopathy; Ptosis; Ragged-red muscle fibers; Reduced tendon reflexes; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Skeletal muscle atrophy; Small intestinal dysmotility; Third degree atrioventricular block; VomitingRhabdomyolysis
SCARB24q21.1100%gene with protein product602257CD36L2Abdominal pain; Anemia; Anorexia; Aseptic necrosis; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Cerebellar atrophy; Delayed puberty; Delayed skeletal maturation; Dysarthria; Dysphagia; EEG with polyspike wave complexes; Focal segmental glomerulosclerosis; Gait ataxia; Generalized seizures; Gingival bleeding; Hepatomegaly; Hypersplenism; Increased bone mineral density; Intention tremor; Kyphosis; Limb ataxia; Morning myoclonic jerks; Myoclonus; Nephropathy; Nephrotic syndrome; Osteolysis; Osteopenia; Pancytopenia; Postural tremor; Proteinuria; Rapidly progressive; Renal insufficiency; Splenomegaly; Thrombocytopenia
SCYL111q13.1100%gene with protein product607982NTKLAutosomal recessive inheritance; Cerebellar atrophy; Distal sensory impairment; Frequent falls; Gait ataxia; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hyporeflexia; Motor delay; Sensorimotor neuropathy; Splenomegaly; Tremor
SIL15q31.2100%gene with protein product608005MSSAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of finger; Abnormality of the cerebellar vermis; Abnormality of the metacarpal bones; Aplasia/Hypoplasia involving the skeletal musculature; Ataxia; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Brachydactyly; Cataract; Centrally nucleated skeletal muscle fibers; Cerebellar cortical atrophy; Cerebellar hypoplasia; Congenital cataract; Coxa valga; Cubitus valgus; Dysarthria; Dyskinesia; Dysphonia; Elevated serum creatine phosphokinase; External genital hypoplasia; Failure to thrive; Flexion contracture; Gait ataxia; Generalized hypotonia; Global developmental delay; Hip dislocation; Hip dysplasia; Hypergonadotropic hypogonadism; Hypogonadism; Infantile onset; Intellectual disability; Kyphosis; Limb ataxia; Metatarsus valgus; Microcephaly; Muscle flaccidity; Muscle stiffness; Muscular dystrophy; Muscular hypotonia; Myopathy; Nystagmus; Pectus carinatum; Pes planus; Progressive muscle weakness; Rigidity; Scoliosis; Severe short stature; Short metacarpal; Short metatarsal; Short palm; Short stature; Skeletal muscle atrophy; Spasticity; Specific learning disability; StrabismusRhabdomyolysis
SLC19A32q36.3100%gene with protein product606152Abnormality of the basal ganglia; Autosomal recessive inheritance; Babinski sign; Coma; Confusion; Craniofacial dystonia; Dysarthria; Dysphagia; Encephalopathy; External ophthalmoplegia; Fever; Gait ataxia; Inability to walk; Irritability; Juvenile onset; Morphological abnormality of the pyramidal tract; Muscular hypotonia of the trunk; Mutism; Nystagmus; Paraparesis; Ptosis; Rigidity; Seizures
SLC9A11p36.1199.99%gene with protein product107310APNH, NHE1Action tremor; Autosomal recessive inheritance; Dysarthria; Dysdiadochokinesis; Dysmetria; Gait ataxia; Limb ataxia; Motor delay; Progressive
SLC9A6Xq26.399.51%gene with protein product300231Abnormality of the foot; Absent speech; Adducted thumb; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the corpus callosum; Autism; Bowel incontinence; Cachexia; Cerebellar atrophy; Cerebral cortical atrophy; Conspicuously happy disposition; Decreased body weight; Developmental regression; Drooling; Dysphagia; Dystonia; Feeding difficulties in infancy; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Generalized seizures; Global developmental delay; Happy demeanor; Hyperkinesis; Inappropriate laughter; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Long face; Long nose; Loss of ability to walk in first decade; Macrotia; Mandibular prognathia; Microcephaly; Mutism; Narrow chest; Narrow face; Neuronal loss in central nervous system; Nystagmus; Open mouth; Ophthalmoplegia; Pectus excavatum; Photosensitive tonic-clonic seizures; Severe global developmental delay; Skeletal muscle atrophy; Sleep disturbance; Slender finger; Stereotypy; Strabismus; Thick eyebrow; Truncal ataxia; Urinary incontinence; Ventriculomegaly; X-linked dominant inheritance
SPG716q24.3100%gene with protein product602783CMARAbnormal mitochondrial morphology; Adult onset; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Degeneration of the lateral corticospinal tracts; Dysarthria; Dysphagia; Gait ataxia; Hyperreflexia; Impaired vibration sensation in the lower limbs; Lower limb hyperreflexia; Lower limb hypertonia; Lower limb muscle weakness; Lower limb spasticity; Memory impairment; Nasal speech; Nystagmus; Optic atrophy; Pes cavus; Ragged-red muscle fibers; Scoliosis; Slowed slurred speech; Spastic gait; Spastic paraplegia; Supranuclear gaze palsy; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency
SPTBN211q13.2100%gene with protein product604985SCA5Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cognitive impairment; Delayed speech and language development; Dysarthria; Dysdiadochokinesis; Dysmetria; Facial myokymia; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Global developmental delay; Hyperreflexia; Impaired smooth pursuit; Impaired vibratory sensation; Incoordination; Infantile onset; Intellectual disability, mild; Intention tremor; Limb ataxia; Progressive cerebellar ataxia; Progressive gait ataxia; Slow progression; Slurred speech; Truncal ataxia
SPTBN211q13.2100%gene with protein product604985SCA5Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cognitive impairment; Delayed speech and language development; Dysarthria; Dysdiadochokinesis; Dysmetria; Facial myokymia; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Global developmental delay; Hyperreflexia; Impaired smooth pursuit; Impaired vibratory sensation; Incoordination; Infantile onset; Intellectual disability, mild; Intention tremor; Limb ataxia; Progressive cerebellar ataxia; Progressive gait ataxia; Slow progression; Slurred speech; Truncal ataxia
SQSTM15q35.3100%gene with protein product601530PDB3, OSILAbnormal brain FDG positron emission tomography; Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral white matter; Absent Achilles reflex; Aggressive behavior; Amyotrophic lateral sclerosis; Anxiety; Apathy; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Brain stem compression; Bulbar palsy; Cerebral cortical atrophy; Collectionism; Cranial nerve paralysis; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysdiadochokinesis; Dysgraphia; Dyslexia; Dysmetria; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: myotonic discharges; EMG: positive sharp waves; Emotional blunting; Emotional lability; Facial palsy; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Fractures of the long bones; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized muscle weakness; Heterogeneous; Hip flexor weakness; Hydroxyprolinuria; Hyperorality; Hyperreflexia; Hyporeflexia; Hypothyroidism; Inappropriate behavior; Increased susceptibility to fractures; Increased variability in muscle fiber diameter; Irritability; Lack of insight; Language impairment; Limb ataxia; Limited shoulder movement; Limited wrist extension; Long-tract signs; Loss of speech; Memory impairment; Mental deterioration; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle fiber inclusion bodies; Mutism; Neurodegeneration; Nystagmus; Oculomotor apraxia; Osteolysis; Osteosarcoma; Pain; Paralysis; Paraparesis; Patchy osteosclerosis; Perseveration; Personality changes; Phenotypic variability; Poor speech; Premature loss of teeth; Progressive; Respiratory failure; Restlessness; Restrictive behavior; Rimmed vacuoles; Scapular winging; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spasticity; Steppage gait; Stereotypy; Tetraparesis; Thickened nuchal skin fold; Tibialis muscle weakness; Tremor; Variable expressivity; Vertebral compression fractures; Vertical supranuclear gaze palsy; Xerostomia
SYNE16q25.2100%gene with protein product608441C6orf98Adult onset; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Childhood onset; Dysarthria; Dysmetria; Elevated serum creatine phosphokinase; Gait ataxia; Left ventricular septal hypertrophy; Limb ataxia; Muscular dystrophy; Neck muscle weakness; Nystagmus; Phenotypic variability; Proximal amyotrophy; Proximal muscle weakness; Slow progression
SYNJ121q22.11100%gene with protein product604297Abnormal pyramidal signs; Akinesia; Autosomal recessive inheritance; Bradykinesia; Brain atrophy; Dysarthria; Dystonia; Elevated serum creatine phosphokinase; Epileptic encephalopathy; Eyelid apraxia; Fatigue; Feeding difficulties; Gait ataxia; Generalized hypotonia; Hypomimic face; Hypoplasia of the corpus callosum; Hyporeflexia; Inability to walk; Increased serum lactate; Intellectual disability; Intellectual disability, profound; Leg muscle stiffness; Parkinsonism; Pes cavus; Postural instability; Progressive; Progressive neurologic deterioration; Resting tremor; Rigidity; Scoliosis; Seizures; Short stepped shuffling gait; Shuffling gait; Slowed slurred speech; Spastic tetraplegia; Staring gaze; Status epilepticus; Supranuclear gaze palsy; Tremor; Weak voice
TANGO222q11.21100%gene with protein product616830C22orf25Acute rhabdomyolysis; Ataxia; Autosomal recessive inheritance; Cardiac arrest; Cerebral atrophy; Clonus; Drooling; Dysarthria; Elevated hepatic transaminases; Elevated plasma acylcarnitine levels; Elevated serum creatine phosphokinase; Gait ataxia; Gait disturbance; Generalized hypotonia; Hyperactive deep tendon reflexes; Hypothyroidism; Intellectual disability; Ketonuria; Lactic acidosis; Metabolic acidosis; Muscle weakness; Myoglobinuria; Myopathic facies; Neurodegeneration; Oral-pharyngeal dysphagia; Poor coordination; Ventricular fibrillationRhabdomyolysis
TBP6q27100%gene with protein productXomeDxSlice is not appropriate.600075GTF2D1, SCA17Abnormal pyramidal signs; Aggressive behavior; Apraxia; Ataxia; Atrophy/Degeneration affecting the brainstem; Autosomal dominant inheritance; Behavioral abnormality; Blepharospasm; Bradykinesia; Broad-based gait; Cerebellar atrophy; Cerebellar Purkinje layer atrophy; Chorea; Confusion; Depressivity; Diffuse cerebral atrophy; Dysarthria; Dysmetria; Dysphagia; Dystonia; Frontal lobe dementia; Frontal release signs; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Generalized cerebral atrophy/hypoplasia; Gliosis; Hallucinations; Impaired pursuit initiation and maintenance; Intention tremor; Lack of insight; Limb ataxia; Mental deterioration; Mutism; Myoclonus; Neuronal loss in central nervous system; Paranoia; Parkinsonism; Positive Romberg sign; Progressive; Rigidity; Seizures; Spasticity; Torticollis; Urinary incontinenceDisorders of Sex Development; Ectodermal Dysplasia
TCF418q21.2100%gene with protein product602272Abnormal large intestine physiology; Abnormality of the palate; Absent speech; Acrocyanosis; Aggressive behavior; Anteverted nares; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Ascites; Astigmatism; Autoimmunity; Autosomal dominant inheritance; Broad fingertip; Cirrhosis; Clinodactyly; Clubbing; Coarse facial features; Constipation; Cryptorchidism; Cupped ear; Deeply set eye; Dilated superficial abdominal veins; Dysautonomia; Dysphasia; Echolalia; Elevated alkaline phosphatase of hepatic origin; Elevated hepatic transaminases; Encephalopathy; Esophagitis; Failure of eruption of permanent teeth; Failure to thrive; Feeding difficulties; Fever; Finger clinodactyly; Full cheeks; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hepatic fibrosis; Hepatomegaly; Hepatosplenomegaly; Hiatus hernia; Hyperventilation; Hypoplasia of the corpus callosum; Incoordination; Intellectual disability, moderate; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Microcephaly; Micropenis; Misalignment of teeth; Motor delay; Muscular hypotonia; Mutism; Myopia; Narrow foot; Narrow forehead; Open mouth; Overhanging nasal tip; Palmar telangiectasia; Pes planus; Pes valgus; Portal hypertension; Prominent nasal bridge; Seizures; Short metatarsal; Short neck; Short philtrum; Single transverse palmar crease; Sleep apnea; Small cerebral cortex; Small hand; Specific learning disability; Spider hemangioma; Splenomegaly; Strabismus; Tapered finger; Thick vermilion border; Thickened helices; Triangular nasal tip; Ulcerative colitis; Upslanted palpebral fissure; Weight loss; Wide mouth; Wide nasal bridge; Widely spaced teeth
TCF418q21.2100%gene with protein product602272Abnormal large intestine physiology; Abnormality of the palate; Absent speech; Acrocyanosis; Aggressive behavior; Anteverted nares; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Ascites; Astigmatism; Autoimmunity; Autosomal dominant inheritance; Broad fingertip; Cirrhosis; Clinodactyly; Clubbing; Coarse facial features; Constipation; Cryptorchidism; Cupped ear; Deeply set eye; Dilated superficial abdominal veins; Dysautonomia; Dysphasia; Echolalia; Elevated alkaline phosphatase of hepatic origin; Elevated hepatic transaminases; Encephalopathy; Esophagitis; Failure of eruption of permanent teeth; Failure to thrive; Feeding difficulties; Fever; Finger clinodactyly; Full cheeks; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hepatic fibrosis; Hepatomegaly; Hepatosplenomegaly; Hiatus hernia; Hyperventilation; Hypoplasia of the corpus callosum; Incoordination; Intellectual disability, moderate; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Microcephaly; Micropenis; Misalignment of teeth; Motor delay; Muscular hypotonia; Mutism; Myopia; Narrow foot; Narrow forehead; Open mouth; Overhanging nasal tip; Palmar telangiectasia; Pes planus; Pes valgus; Portal hypertension; Prominent nasal bridge; Seizures; Short metatarsal; Short neck; Short philtrum; Single transverse palmar crease; Sleep apnea; Small cerebral cortex; Small hand; Specific learning disability; Spider hemangioma; Splenomegaly; Strabismus; Tapered finger; Thick vermilion border; Thickened helices; Triangular nasal tip; Ulcerative colitis; Upslanted palpebral fissure; Weight loss; Wide mouth; Wide nasal bridge; Widely spaced teeth
TECPR214q32.33100%gene with protein product615000KIAA0329Areflexia; Autosomal recessive inheritance; Brachycephaly; Broad neck; Central apnea; Cerebral atrophy; Dental crowding; Dysarthria; Dysmetria; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hypomimic face; Hypoplasia of the corpus callosum; Low anterior hairline; Microcephaly; Round face; Short neck; Short stature; Spastic gait; Spastic paraplegia
TGM620p13100%gene with protein product613900TGM3LAbnormality of the orbital region; Adult onset; Autosomal dominant inheritance; Babinski sign; Cerebellar atrophy; Difficulty walking; Dysarthria; Dysmetria; Gait ataxia; Hyperreflexia; Incoordination; Intention tremor; Limb ataxia; Neck muscle weakness; Progressive cerebellar ataxia; Slow progression; Torticollis
TH11p15.5100%gene with protein product191290Autosomal recessive inheritance; Babinski sign; Bradykinesia; Brisk reflexes; Central hypotonia; Constipation; Decreased CSF homovanillic acid; Delayed speech and language development; Excessive salivation; Feeding difficulties; Focal dystonia; Gait ataxia; Hypokinesia; Infantile onset; Irritability; Lethargy; Limb dystonia; Lower limb hyperreflexia; Mask-like facies; Motor delay; Muscular hypotonia of the trunk; Myoclonus; Night sweats; Oculogyric crisis; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Pes cavus; Postural tremor; Ptosis; Rigidity; Talipes equinovarus; Tremor; Variable expressivityBone Marrow Failure Syndromes ; Ectodermal Dysplasia ; Obesity
TH11p15.5100%gene with protein product191290Autosomal recessive inheritance; Babinski sign; Bradykinesia; Brisk reflexes; Central hypotonia; Constipation; Decreased CSF homovanillic acid; Delayed speech and language development; Excessive salivation; Feeding difficulties; Focal dystonia; Gait ataxia; Hypokinesia; Infantile onset; Irritability; Lethargy; Limb dystonia; Lower limb hyperreflexia; Mask-like facies; Motor delay; Muscular hypotonia of the trunk; Myoclonus; Night sweats; Oculogyric crisis; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Pes cavus; Postural tremor; Ptosis; Rigidity; Talipes equinovarus; Tremor; Variable expressivityBone Marrow Failure Syndromes ; Ectodermal Dysplasia ; Obesity
TMEM2401p36.3399.93%gene with protein product616101C1orf70, SCA21Aggressive behavior; Akinesia; Apathy; Autosomal dominant inheritance; Cerebellar atrophy; Cognitive impairment; Cogwheel rigidity; Dysarthria; Dysgraphia; Gait ataxia; Global developmental delay; Hyporeflexia; Impulsivity; Intellectual disability; Limb ataxia; Microsaccadic pursuit; Parkinsonism; Postural tremor; Progressive cerebellar ataxia; Scanning speech; Slow progression; Slow saccadic eye movements
UBA53q22.199.42%gene with protein product610552UBE1DC1Absent speech; Athetosis; Autosomal recessive inheritance; Cataract; Cerebellar atrophy; Cerebral atrophy; Delayed myelination; Dysarthria; Dystonia; Encephalopathy; Failure to thrive; Feeding difficulties; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Hypoplasia of the corpus callosum; Intellectual disability, severe; Irritability; Limb ataxia; Mask-like facies; Nystagmus; Poor eye contact; Postnatal microcephaly; Progressive; Seizures; Short stature; Spasticity
UROC13q21.3100%gene with protein product613012Abnormality of histidine metabolism; Action tremor; Aggressive behavior; Ataxia; Autosomal recessive inheritance; Blue irides; Broad-based gait; Dysarthria; Fair hair; Gait ataxia; Gaze-evoked horizontal nystagmus; Hyperactive deep tendon reflexes; Intellectual disability, progressive; Intellectual disability, severe; Recurrent infections; Short stature; Tremor; Truncal ataxia; Urocanic aciduria
VLDLR9p24.2100%gene with protein product192977Abnormality of metabolism/homeostasis; Ataxia; Autosomal recessive inheritance; Broad-based gait; Cataract; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral palsy; Congenital onset; Cortical gyral simplification; Delayed speech and language development; Dysarthria; Dysdiadochokinesis; Dysmetria; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Generalized hypotonia; Global developmental delay; Hyperreflexia; Hypoplasia of the brainstem; Intellectual disability; Intention tremor; Muscular hypotonia; Nonprogressive; Pachygyria; Pes planus; Poor speech; Seizures; Short stature; Skeletal muscle atrophy; Strabismus; Truncal ataxia
WWOX16q23.1-q23.100%gene with protein product605131Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Abnormality of the voice; Ambiguous genitalia; Autosomal recessive inheritance; Azoospermia; Cerebellar atrophy; Chest pain; Clinodactyly of the 5th toe; Clitoral hypertrophy; Cough; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Dysarthria; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Epileptic encephalopathy; Esophageal carcinoma; Feeding difficulties in infancy; Female external genitalia in individual with 46,XY karyotype; Gait ataxia; Gaze-evoked nystagmus; Global developmental delay; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hyperreflexia; Hypokinesia; Hypoplasia of the vagina; Hyporeflexia; Hypospadias; Intellectual disability; Limb ataxia; Male infertility; Microcephaly; Micropenis; Muscular hypotonia of the trunk; Nausea and vomiting; Osteoporosis; Primary amenorrhea; Progressive microcephaly; Rigidity; Seizures; Sparse axillary hair; Sparse pubic hair; Spasticity; Streak ovary; Urogenital sinus anomaly; Vanishing testis; Variable expressivityDisorders 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