XomeDxSlice Tool

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

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Phenotypes
Lissencephaly

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACTB7p22.1100%gene with protein product102630Abnormality of metabolism/homeostasis; Achalasia; Agenesis of corpus callosum; Anteverted nares; Aortic valve stenosis; Aphasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicuspid aortic valve; Blindness; Cataract; Cerebral cortical hemiatrophy; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coarse facial features; Cryptorchidism; Death in early adulthood; Delayed cranial suture closure; Depressed nasal tip; Downslanted palpebral fissures; Dysphagia; Dysphasia; Echolalia; Epicanthus; Euryblepharon; Externally rotated hips; Failure to thrive; Feeding difficulties; Full cheeks; Generalized dystonia; Generalized hypotonia; Global developmental delay; Growth delay; Hamartoma; Heterochromia iridis; High forehead; Highly arched eyebrow; Hydronephrosis; Hydroureter; Hypermelanotic macule; Hypertelorism; Hypoplastic scapulae; Immunodeficiency; Intellectual disability; Intellectual disability, mild; Iris coloboma; Joint stiffness; Kyphoscoliosis; Kyphosis; Large fontanelles; Lipoatrophy; Lissencephaly; Long nose; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Macroglossia; Macrogyria; Mental deterioration; Microcephaly; Micrognathia; Micromelia; Micropenis; Mild global developmental delay; Mutism; Oral cleft; Osteochondrosis; Overfolded helix; Pachygyria; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pointed chin; Polymicrogyria; Postnatal growth retardation; Prominent metopic ridge; Prominent nose; Ptosis; Retinoschisis; Retrognathia; Scoliosis; Seizures; Sensorineural hearing impairment; Short columella; Short neck; Short nose; Short stature; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small for gestational age; Specific learning disability; Subcortical cerebral atrophy; Supernumerary nipple; Telecanthus; Thin upper lip vermilion; Thin vermilion border; Trigonocephaly; Wide mouth; Wide nasal bridge; Wide nose
ACTB7p22.1100%gene with protein product102630Abnormality of metabolism/homeostasis; Achalasia; Agenesis of corpus callosum; Anteverted nares; Aortic valve stenosis; Aphasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicuspid aortic valve; Blindness; Cataract; Cerebral cortical hemiatrophy; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coarse facial features; Cryptorchidism; Death in early adulthood; Delayed cranial suture closure; Depressed nasal tip; Downslanted palpebral fissures; Dysphagia; Dysphasia; Echolalia; Epicanthus; Euryblepharon; Externally rotated hips; Failure to thrive; Feeding difficulties; Full cheeks; Generalized dystonia; Generalized hypotonia; Global developmental delay; Growth delay; Hamartoma; Heterochromia iridis; High forehead; Highly arched eyebrow; Hydronephrosis; Hydroureter; Hypermelanotic macule; Hypertelorism; Hypoplastic scapulae; Immunodeficiency; Intellectual disability; Intellectual disability, mild; Iris coloboma; Joint stiffness; Kyphoscoliosis; Kyphosis; Large fontanelles; Lipoatrophy; Lissencephaly; Long nose; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Macroglossia; Macrogyria; Mental deterioration; Microcephaly; Micrognathia; Micromelia; Micropenis; Mild global developmental delay; Mutism; Oral cleft; Osteochondrosis; Overfolded helix; Pachygyria; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pointed chin; Polymicrogyria; Postnatal growth retardation; Prominent metopic ridge; Prominent nose; Ptosis; Retinoschisis; Retrognathia; Scoliosis; Seizures; Sensorineural hearing impairment; Short columella; Short neck; Short nose; Short stature; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small for gestational age; Specific learning disability; Subcortical cerebral atrophy; Supernumerary nipple; Telecanthus; Thin upper lip vermilion; Thin vermilion border; Trigonocephaly; Wide mouth; Wide nasal bridge; Wide nose
ACTG117q25.3100%gene with protein product102560ACTG, DFNA20, DFNA26Abnormality of the pinna; Aphasia; Autosomal dominant inheritance; Bilateral sensorineural hearing impairment; Cerebral cortical hemiatrophy; Coarse facial features; Delayed cranial suture closure; Depressed nasal tip; Downslanted palpebral fissures; Dysphasia; Echolalia; Epicanthus; Euryblepharon; Failure to thrive; Feeding difficulties; Full cheeks; Global developmental delay; Growth delay; Heterochromia iridis; Highly arched eyebrow; Hydronephrosis; Hydroureter; Hypertelorism; Intellectual disability; Iris coloboma; Joint stiffness; Large fontanelles; Lissencephaly; Long nose; Long palpebral fissure; Long philtrum; Low posterior hairline; Macrogyria; Microcephaly; Micrognathia; Mutism; Osteochondrosis; Pachygyria; Pointed chin; Polymicrogyria; Progressive sensorineural hearing impairment; Prominent metopic ridge; Prominent nose; Ptosis; Retinoschisis; Retrognathia; Seizures; Short columella; Short neck; Skeletal dysplasia; Specific learning disability; Subcortical cerebral atrophy; Telecanthus; Thin upper lip vermilion; Thin vermilion border; Trigonocephaly; Wide mouth; Wide nasal bridge; Wide nose; Young adult onset
ARXXp21.399.72%gene with protein product300382MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87Abnormal hair pattern; Abnormality of skin morphology; Abnormality of the hip bone; Abnormally large globe; Agenesis of corpus callosum; Ambiguous genitalia; Broad alveolar ridges; Choreoathetosis; Coarse facial features; Cryptorchidism; Death in infancy; Decreased testicular size; Delayed speech and language development; Developmental regression; Diarrhea; Duane anomaly; Dysarthria; Dysphagia; Dyspnea; Dystonia; EEG abnormality; Epileptic encephalopathy; Feeding difficulties in infancy; Flexion contracture; Focal dystonia; Generalized hirsutism; Generalized hypotonia; Generalized myoclonic seizures; Gliosis; Global developmental delay; Hemiplegia; High forehead; High palate; Hirsutism; Hyperconvex nail; Hyperreflexia; Hypohidrosis; Hypoplasia of penis; Hypospadias; Hypsarrhythmia; Infantile spasms; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb dystonia; Limb joint contracture; Lissencephaly; Long philtrum; Long upper lip; Low anterior hairline; Low-set ears; Lower limb spasticity; Malabsorption; Microcephaly; Micrognathia; Micropenis; Muscle stiffness; Muscular hypotonia; Muscular hypotonia of the trunk; Myoclonus; Neonatal hypotonia; Nystagmus; Optic atrophy; Overlapping toe; Pachygyria; Profound global developmental delay; Prominent nasal bridge; Prominent supraorbital ridges; Protruding ear; Renal dysplasia; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short stature; Spastic tetraplegia; Spasticity; Specific learning disability; Status epilepticus; Strabismus; Synophrys; Tapered finger; Tetraplegia; Thin upper lip vermilion; Triangular face; Ventriculomegaly; Visual impairment; Wide anterior fontanel; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
ATP6V0A212q24.31100%gene with protein product611716Abnormal apolipoprotein level; Abnormal isoelectric focusing of serum transferrin; Abnormal subcutaneous fat tissue distribution; Abnormality of the cheek; Anteverted nares; Atrial septal dilatation; Autosomal recessive inheritance; Broad nasal tip; Carious teeth; Cerebellar hypoplasia; Coarse hair; Congenital hip dislocation; Coxa vara; Cryptorchidism; Cutis laxa; Dandy-Walker malformation; Decreased muscle mass; Deep palmar crease; Deep plantar creases; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dementia; Downslanted palpebral fissures; Epicanthus; Excessive skin wrinkling on dorsum of hands and fingers; Excessive wrinkled skin; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Fragile nails; Fragmented elastic fibers in the dermis; Frontal bossing; Generalized hypotonia; Generalized joint laxity; Global developmental delay; High myopia; High nonceruloplasmin-bound serum copper; High palate; Hypertelorism; Hypoplasia of the musculature; Infantile muscular hypotonia; Inguinal hernia; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Joint hypermobility; Kyphoscoliosis; Kyphosis; Lipodystrophy; Lissencephaly; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Microdontia; Midface retrusion; Motor delay; Multiple palmar creases; Multiple plantar creases; Muscular hypotonia; Myopia; Narrow mouth; Nasal speech; Neonatal wrinkled skin of hands and feet; Osteopenia; Pachygyria; Palmoplantar cutis laxa; Pectus excavatum; Pes planus; Polymicrogyria; Poor speech; Postnatal growth retardation; Premature rupture of membranes; Progressive cerebellar ataxia; Progressive microcephaly; Prominent nasolabial fold; Prominent veins on trunk; Psychomotor deterioration; Recurrent sinopulmonary infections; Redundant neck skin; Redundant skin; Scapular winging; Scoliosis; Seizures; Short nail; Short nose; Short stature; Slender long bone; Slender long bones with narrow diaphyses; Slurred speech; Small, conical teeth; Smooth philtrum; Sparse hair; Spasticity; Status epilepticus; Strabismus; Subretinal pigment epithelium hemorrhage; Talipes equinovarus; Thick cerebral cortex; Thick hair; Umbilical hernia; Wide anterior fontanel; Wide nasal bridge; Wormian bones
ATP6V1A3q13.3199.95%gene with protein product607027VPP2, ATP6A1, ATP6V1A1Abnormal apolipoprotein level; Abnormal isoelectric focusing of serum transferrin; Abnormal subcutaneous fat tissue distribution; Broad nasal tip; Carious teeth; Cerebellar hypoplasia; Coarse hair; Congenital hip dislocation; Dandy-Walker malformation; Decreased muscle mass; Delayed closure of the anterior fontanelle; Delayed speech and language development; Dementia; Downslanted palpebral fissures; Excessive wrinkled skin; Failure to thrive; Feeding difficulties; Fragmented elastic fibers in the dermis; Generalized joint laxity; Global developmental delay; High myopia; High palate; Hypertelorism; Infantile muscular hypotonia; Inguinal hernia; Intellectual disability, profound; Intrauterine growth retardation; Lipodystrophy; Lissencephaly; Long philtrum; Low-set ears; Malar flattening; Motor delay; Pachygyria; Polymicrogyria; Poor speech; Postnatal growth retardation; Progressive microcephaly; Prominent nasolabial fold; Prominent veins on trunk; Psychomotor deterioration; Redundant neck skin; Seizures; Short nose; Short stature; Smooth philtrum; Sparse hair; Spasticity; Strabismus; Subretinal pigment epithelium hemorrhage; Thick cerebral cortex; Thick hair
ATP6V1E122q11.21100%gene with protein product108746ATP6E, ATP6V1EAbnormal apolipoprotein level; Abnormal isoelectric focusing of serum transferrin; Abnormal subcutaneous fat tissue distribution; Aortic regurgitation; Atrial septal defect; Autosomal recessive inheritance; Bilateral cryptorchidism; Broad columella; Broad nasal tip; Carious teeth; Cerebellar hypoplasia; Coarse hair; Congenital hip dislocation; Dandy-Walker malformation; Decreased body weight; Decreased muscle mass; Delayed closure of the anterior fontanelle; Delayed speech and language development; Dementia; Dental crowding; Disproportionate tall stature; Downslanted palpebral fissures; Entropion; Excessive wrinkled skin; Failure to thrive; Feeding difficulties; Fragmented elastic fibers in the dermis; Generalized hypotonia; Generalized joint laxity; Global developmental delay; Hand clenching; High myopia; High palate; Hip dysplasia; Hypertelorism; Infantile muscular hypotonia; Inguinal hernia; Intellectual disability, profound; Intrauterine growth retardation; Joint laxity; Knee flexion contracture; Kyphoscoliosis; Laryngomalacia; Lipodystrophy; Lissencephaly; Long philtrum; Low-set ears; Malar flattening; Mitral valve prolapse; Motor delay; Narrow naris; Nystagmus; Pachygyria; Pes planus; Polymicrogyria; Poor speech; Postnatal growth retardation; Progressive microcephaly; Prominent nasolabial fold; Prominent veins on trunk; Psychomotor deterioration; Reduced subcutaneous adipose tissue; Redundant neck skin; Seizures; Short nose; Short stature; Smooth philtrum; Sparse hair; Spasticity; Strabismus; Subretinal pigment epithelium hemorrhage; Talipes equinovarus; Thick cerebral cortex; Thick hair; Tricuspid regurgitation
B3GALNT21q42.399.76%gene with protein product610194Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Blindness; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Gait disturbance; Glaucoma; Global developmental delay; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the pons; Hyporeflexia; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Polymicrogyria; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Specific learning disability; Strabismus; Type II lissencephaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
B4GAT111q13.2100%gene with protein productFormer name = B3GNT1605517B3GNT6, B3GNT1Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Agenesis of corpus callosum; Anencephaly; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Blindness; Cerebellar hypoplasia; Chorioretinal dysplasia; Congenital onset; Corneal opacity; Cortical dysplasia; Cryptorchidism; Dandy-Walker malformation; Elevated serum creatine phosphokinase; Glaucoma; Global developmental delay; Hydrocephalus; Hydronephrosis; Hypoplasia of penis; Hypoplasia of the brainstem; Hyporeflexia; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Micropenis; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Occipital encephalocele; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Pachygyria; Polymicrogyria; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Spasticity; Specific learning disability; Type II lissencephalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
CDK57q36.1100%gene with protein product123831Agenesis of corpus callosum; Areflexia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Cerebellar hypoplasia; Congenital onset; Full cheeks; Global developmental delay; Hand clenching; Hirsutism; Lissencephaly; Lymphedema; Microcephaly; Micrognathia; Short neck
COL4A113q3499.99%gene with protein product120130Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal dominant inheritance; Babinski sign; Blurred vision; Cerebellar atrophy; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Dilatation of the cerebral artery; Elevated serum creatine phosphokinase; Exotropia; Facial paralysis; Glaucoma; Global developmental delay; Hematuria; Hemiparesis; Hemiplegia; Hemolytic anemia; Hydrocephalus; Hypopigmentation of the fundus; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Ischemic stroke; Leukoencephalopathy; Limb dystonia; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Migraine with aura; Multiple renal cysts; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Nephropathy; Optic atrophy; Pachygyria; Polymicrogyria; Porencephalic cyst; Posterior leukoencephalopathy; Raynaud phenomenon; Renal cyst; Renal insufficiency; Retinal arteriolar tortuosity; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Retinal hemorrhage; Retinal vascular tortuosity; Schizencephaly; Scotoma; Seizures; Skeletal muscle atrophy; Spasticity; Specific learning disability; Supraventricular arrhythmia; Tetraparesis; Variable expressivity; Visual field defect; Visual lossHemolytic Anemia ; Muscular dystropy-dystroglycanopathy (Walker-Warburg)
CRADD12q2299.99%gene with protein product603454Autosomal recessive inheritance; Delayed speech and language development; Increased head circumference; Intellectual disability; Lissencephaly; Megalencephaly
DAG13p21.31100%gene with protein product128239Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Absent speech; Agenesis of corpus callosum; Ankle contracture; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral calcification; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Elevated serum creatine phosphokinase; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Hydrocephalus; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hyporeflexia; Infantile onset; Intellectual disability; Leukodystrophy; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopia; Optic atrophy; Pachygyria; Polymicrogyria; Poor head control; Respiratory failure; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Skeletal muscle atrophy; Specific learning disability; Variable expressivity; VentriculomegalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
DCXXq23100%gene with protein product300121Agenesis of corpus callosum; Ataxia; Death in infancy; Dysarthria; Feeding difficulties; Hypertonia; Incomplete penetrance; Infantile onset; Intellectual disability; Intellectual disability, severe; Lissencephaly; Micropenis; Motor delay; Muscular hypotonia; Muscular hypotonia of the trunk; Nystagmus; Pachygyria; Postnatal growth retardation; Seizures; X-linked inheritance
FKRP19q13.32100%gene with protein product606596Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the cerebral white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Calf muscle hypertrophy; Cataract; Cerebellar atrophy; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Death in childhood; Delayed gross motor development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Feeding difficulties in infancy; Frequent falls; Gait disturbance; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Kyphosis; Left ventricular failure; Left ventricular hypertrophy; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myalgia; Myopathy; Myopia; Neonatal hypotonia; Neurological speech impairment; Nocturnal hypoventilation; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pelvic girdle muscle weakness; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal amyotrophy; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Restrictive deficit on pulmonary function testing; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Thigh hypertrophy; Toe walking; Type II lissencephaly; Variable expressivity; Vertebral fusion; Visual impairment; Waddling gaitMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
FKTN9q31.299.98%gene with protein productJapanese founder variant in the 3' UTR of FKTN would not be detected by this test607440FCMDAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Blindness; Brachycephaly; Buphthalmos; Calf muscle hypertrophy; Camptodactyly of finger; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Encephalocele; Excessive daytime sleepiness; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pyramidal tract; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macrogyria; Mask-like facies; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myocardial fibrosis; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pectus excavatum; Peters anomaly; Phenotypic variability; Plagiocephaly; Polymicrogyria; Posterior fossa cyst; Progressive; Proximal muscle weakness; Pulmonic stenosis; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Transposition of the great arteries; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairment; Weak cryMuscular dystropy-dystroglycanopathy (Walker-Warburg)
FTO16q12.2100%gene with protein product610966Anteverted nares; Autosomal recessive inheritance; Bifid uvula; Brachydactyly; Cleft palate; Coarse facial features; Cryptorchidism; Cutis marmorata; Dandy-Walker malformation; Failure to thrive; Global developmental delay; Hydrocephalus; Hypertonia; Hypertrophic cardiomyopathy; Intrauterine growth retardation; Lissencephaly; Macroglossia; Microcephaly; Obesity; Patent ductus arteriosus; Protruding tongue; Retrognathia; Seizures; Sensorineural hearing impairment; Short neck; Skull asymmetry; Small nail; Umbilical hernia; Ventricular septal defect
HIC117p13.3100%gene with protein product603825Abnormality of the cardiovascular system; Abnormality of upper lip; Anteverted nares; Cerebral cortical atrophy; EEG abnormality; Epicanthus; Growth delay; High forehead; Lissencephaly; Polyhydramnios; Seizures; Short nose
ISPD7p21.299.96%gene with protein product614631Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Adducted thumb; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Calf muscle hypertrophy; Cataract; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased fetal movement; Deeply set eye; Elevated serum creatine phosphokinase; Encephalocele; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Hydrocephalus; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Limb-girdle muscular dystrophy; Lissencephaly; Low-set ears; Macrocephaly; Macroglossia; Macrogyria; Metatarsus valgus; Microphthalmia; Microtia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Partial agenesis of the corpus callosum; Peters anomaly; Polymicrogyria; Remnants of the hyaloid vascular system; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Retrognathia; Scapular winging; Skeletal muscle atrophy; Slow progression; Specific learning disability; Type II lissencephalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
KATNB116q21100%gene with protein product602703Autosomal recessive inheritance; Cognitive impairment; Cortical gyral simplification; Global developmental delay; Hypoplasia of the corpus callosum; Infantile onset; Lissencephaly; Microcephaly; Pachygyria; Partial agenesis of the corpus callosum; Polymicrogyria; Sloping forehead; Ventriculomegaly
KIF2A5q12.199.89%gene with protein product602591KIF2Autosomal dominant inheritance; Cortical dysplasia; Global developmental delay; Hypoplasia of the corpus callosum; Lissencephaly; Microcephaly; Pachygyria; Seizures; Spastic tetraplegia
LARGE122q12.3100%gene with protein productFormer name = LARGE603590LARGEAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of neuronal migration; Abnormality of the periventricular white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Babinski sign; Blindness; Buphthalmos; Cataract; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased light- and dark-adapted electroretinogram amplitude; EEG abnormality; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Horizontal nystagmus; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Joint contracture of the hand; Lissencephaly; Lower limb hyperreflexia; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal muscle weakness; Renal dysplasia; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Short stature; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Type II lissencephaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg)
NDE116p13.11100%gene with protein product609449Agenesis of corpus callosum; Athetosis; Autosomal recessive inheritance; Cerebellar hypoplasia; Congenital onset; Cortical gyral simplification; Generalized myoclonic seizures; Global developmental delay; Hydranencephaly; Hyperreflexia; Hypoplasia of the brainstem; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Lissencephaly; Macrotia; Microcephaly; Multiple joint contractures; Pachygyria; Profound global developmental delay; Prominent nasal bridge; Proptosis; Seizures; Self-mutilation; Short stature; Skeletal muscle atrophy; Sloping forehead; Spastic tetraplegia; Talipes equinovarus; Ventriculomegaly
OCLN5q13.282.5%gene with protein product602876Abnormality of movement; Anteverted nares; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Decreased liver function; Elevated hepatic transaminases; Failure to thrive; Global developmental delay; Hepatomegaly; High palate; Hyperreflexia; Increased CSF protein; Intellectual disability, profound; Jaundice; Lissencephaly; Long philtrum; Low-set ears; Microcephaly; Microretrognathia; Muscular hypotonia of the trunk; Nystagmus; Pachygyria; Petechiae; Phenotypic variability; Polymicrogyria; Seizures; Sloping forehead; Spasticity; Splenomegaly; Thrombocytopenia; Ventriculomegaly
PAFAH1B117p13.396.91%gene with protein product601545MDCR, MDSAbnormality of the cardiovascular system; Abnormality of the cerebral white matter; Abnormality of upper lip; Anteverted nares; Cerebellar hypoplasia; Cerebral cortical atrophy; Downslanted palpebral fissures; EEG abnormality; Epicanthus; Frontal bossing; Global developmental delay; Growth delay; Heterotopia; High forehead; Hypertelorism; Hypoplasia of the brainstem; Intellectual disability; Lissencephaly; Low-set ears; Muscular hypotonia; Muscular hypotonia of the trunk; Narrow mouth; Pachygyria; Polyhydramnios; Postnatal microcephaly; Seizures; Short neck; Short nose; Spastic tetraparesis; Sporadic; Variable expressivity; Ventriculomegaly; Wide nose
PAFAH1B117p13.396.91%gene with protein product601545MDCR, MDSAbnormality of the cardiovascular system; Abnormality of the cerebral white matter; Abnormality of upper lip; Anteverted nares; Cerebellar hypoplasia; Cerebral cortical atrophy; Downslanted palpebral fissures; EEG abnormality; Epicanthus; Frontal bossing; Global developmental delay; Growth delay; Heterotopia; High forehead; Hypertelorism; Hypoplasia of the brainstem; Intellectual disability; Lissencephaly; Low-set ears; Muscular hypotonia; Muscular hypotonia of the trunk; Narrow mouth; Pachygyria; Polyhydramnios; Postnatal microcephaly; Seizures; Short neck; Short nose; Spastic tetraparesis; Sporadic; Variable expressivity; Ventriculomegaly; Wide nose
PEX132p15100%gene with protein product601789Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Apnea; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Clitoral hypertrophy; CNS hypomyelination; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated hepatic transaminases; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Jaundice; Large face; Lissencephaly; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Multiple renal cysts; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Respiratory tract infection; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Visual loss; Wide anterior fontanel; Wide nasal bridge
PHGDH1p12100%gene with protein product606879Ablepharon; Abnormality of the philtrum; Absent eyelashes; Absent septum pellucidum; Adducted thumb; Agenesis of corpus callosum; Ambiguous genitalia; Aplasia/Hypoplasia involving the skeletal musculature; Autosomal recessive inheritance; Bifid uterus; Broad foot; Calcaneovalgus deformity; Camptodactyly; Cataract; Cerebellar hypoplasia; Cerebral dysmyelination; Choroid plexus cyst; Cleft palate; Cleft upper lip; Clinodactyly; Congenital cataract; Congenital microcephaly; Cryptorchidism; Dandy-Walker malformation; Decreased fetal movement; Decreased testicular size; Depressed nasal ridge; Everted lower lip vermilion; External genital hypoplasia; Finger syndactyly; Generalized edema; Growth delay; Hydranencephaly; Hypertelorism; Hypogonadism; Hypsarrhythmia; Ichthyosis; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Lack of skin elasticity; Large hands; Lissencephaly; Macrogyria; Macrotia; Megaloblastic anemia; Microcephaly; Micrognathia; Micromelia; Microphthalmia; Muscle cramps; Muscular dystrophy; Nystagmus; Opisthotonus; Pachygyria; Patent ductus arteriosus; Patent foramen ovale; Polyhydramnios; Polymicrogyria; Proptosis; Pterygium; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Rocker bottom foot; Seizures; Short neck; Short umbilical cord; Skeletal muscle atrophy; Sloping forehead; Small placenta; Spastic tetraplegia; Spina bifida; Stillbirth; Thick lower lip vermilion; Thick vermilion border; Thrombocytopenia; Toe syndactyly; Transposition of the great arteries; Trismus; Ventricular septal defect; Yellow subcutaneous tissue covered by thin, scaly skinPalmoplantar keratoderma plus congenital ichthyosis
PHGDH1p12100%gene with protein product606879Ablepharon; Abnormality of the philtrum; Absent eyelashes; Absent septum pellucidum; Adducted thumb; Agenesis of corpus callosum; Ambiguous genitalia; Aplasia/Hypoplasia involving the skeletal musculature; Autosomal recessive inheritance; Bifid uterus; Broad foot; Calcaneovalgus deformity; Camptodactyly; Cataract; Cerebellar hypoplasia; Cerebral dysmyelination; Choroid plexus cyst; Cleft palate; Cleft upper lip; Clinodactyly; Congenital cataract; Congenital microcephaly; Cryptorchidism; Dandy-Walker malformation; Decreased fetal movement; Decreased testicular size; Depressed nasal ridge; Everted lower lip vermilion; External genital hypoplasia; Finger syndactyly; Generalized edema; Growth delay; Hydranencephaly; Hypertelorism; Hypogonadism; Hypsarrhythmia; Ichthyosis; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Lack of skin elasticity; Large hands; Lissencephaly; Macrogyria; Macrotia; Megaloblastic anemia; Microcephaly; Micrognathia; Micromelia; Microphthalmia; Muscle cramps; Muscular dystrophy; Nystagmus; Opisthotonus; Pachygyria; Patent ductus arteriosus; Patent foramen ovale; Polyhydramnios; Polymicrogyria; Proptosis; Pterygium; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Rocker bottom foot; Seizures; Short neck; Short umbilical cord; Skeletal muscle atrophy; Sloping forehead; Small placenta; Spastic tetraplegia; Spina bifida; Stillbirth; Thick lower lip vermilion; Thick vermilion border; Thrombocytopenia; Toe syndactyly; Transposition of the great arteries; Trismus; Ventricular septal defect; Yellow subcutaneous tissue covered by thin, scaly skinPalmoplantar keratoderma plus congenital ichthyosis
POMGNT11p34.198.2%gene with protein product606822MEBAbnormal aldolase level; Abnormal electroretinogram; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Anteverted nares; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Coloboma; Conductive hearing impairment; Congenital muscular dystrophy; Congenital myopia; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased light- and dark-adapted electroretinogram amplitude; Difficulty climbing stairs; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged flash visual evoked potentials; Everted lower lip vermilion; Fatigue; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperinsulinemia; Hyperlordosis; Hypertonia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the pons; Hypoplasia of the retina; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Keratoconus; Lissencephaly; Macrocephaly; Macrogyria; Malar flattening; Megalocornea; Metatarsus valgus; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myoclonus; Myopathy; Myopia; Neurological speech impairment; Nyctalopia; Nystagmus; Obesity; Opacification of the corneal stroma; Ophthalmoplegia; Optic atrophy; Pachygyria; Pallor; Phenotypic variability; Photophobia; Polymicrogyria; Progressive; Progressive night blindness; Reduced visual acuity; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short nasal bridge; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Spasticity; Specific learning disability; Strabismus; Type II lissencephaly; Uncontrolled eye movements; Undetectable electroretinogram; Ventriculomegaly; Visual impairment; Wide nasal bridgeMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
POMGNT23p22.1100%gene with protein product614828C3orf39, GTDC2Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Generalized hypotonia; Glaucoma; Global developmental delay; Hydrocephalus; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Optic atrophy; Pachygyria; Polymicrogyria; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Skeletal muscle atrophy; Specific learning disability; Type II lissencephaly; VentriculomegalyMuscular dystropy-dystroglycanopathy (Walker-Warburg)
POMK8p11.21100%gene with protein product615247Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormally large globe; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Cataract; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Coloboma; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Difficulty climbing stairs; Elevated serum creatine phosphokinase; Feeding difficulties; Flexion contracture; Glaucoma; Global developmental delay; Gowers sign; Hydrocephalus; Hypoplasia of penis; Hyporeflexia; Infantile onset; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microcephaly; Microphthalmia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Neonatal hypotonia; Optic atrophy; Pachygyria; Polymicrogyria; Poor head control; Poor speech; Progressive microcephaly; Reduced visual acuity; Respiratory insufficiency due to muscle weakness; Retinal degeneration; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Skeletal muscle atrophy; Specific learning disability; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg)
POMT19q34.1399.8%gene with protein product607423Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Absent speech; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Difficulty climbing stairs; Difficulty walking; Easy fatigability; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged cisterna magna; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Inability to walk; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Renal dysplasia; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Slow progression; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Type II lissencephaly; Variable expressivity; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
POMT214q24.398.02%gene with protein product607439Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Cerebral cortical atrophy; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hip dislocation; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Micropenis; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Open mouth; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
PSAT19q21.299.93%gene with protein product610936Abnormality of the philtrum; Abnormality of the pinna; Absent septum pellucidum; Ambiguous genitalia; Aplasia/Hypoplasia involving the skeletal musculature; Autosomal recessive inheritance; Broad foot; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Congenital onset; Dandy-Walker malformation; Decreased fetal movement; Depressed nasal ridge; Everted lower lip vermilion; External genital hypoplasia; Feeding difficulties in infancy; Global developmental delay; High palate; Hypertelorism; Hypertonia; Hypoglycinemia; Hypogonadism; Hyposerinemia; Ichthyosis; Infantile onset; Intrauterine growth retardation; Lack of skin elasticity; Large hands; Lissencephaly; Low-set ears; Macrogyria; Macrotia; Microcephaly; Micrognathia; Muscle cramps; Muscular dystrophy; Opisthotonus; Pachygyria; Polyhydramnios; Polymicrogyria; Postnatal microcephaly; Proptosis; Rocker bottom foot; Scoliosis; Seizures; Short neck; Skeletal muscle atrophy; Sloping forehead; Thick vermilion border; TrismusPalmoplantar keratoderma plus congenital ichthyosis
RAB1810p12.199.53%gene with protein product602207Abnormality of retinal pigmentation; Abnormality of visual evoked potentials; Ankle clonus; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Blepharophimosis; Brachycephaly; Cataract; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Clitoral hypoplasia; Congenital cataract; Cortical visual impairment; Cryptorchidism; Decreased testicular size; Delayed puberty; Downturned corners of mouth; Flexion contracture; Generalized hirsutism; Global developmental delay; High palate; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplastic labia minora; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphoscoliosis; Kyphosis; Lissencephaly; Low anterior hairline; Low-set, posteriorly rotated ears; Macrotia; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Muscular hypotonia of the trunk; Narrow palate; Nystagmus; Optic atrophy; Pachygyria; Polymicrogyria; Postnatal growth retardation; Postnatal microcephaly; Scoliosis; Scrotal hypoplasia; Seizures; Shallow anterior chamber; Short nose; Short philtrum; Short stature; Spastic tetraplegia; Spasticity; Ventriculomegaly; Wide nasal bridge
RAB3GAP12q21.399.8%gene with protein product602536Abnormal dermatoglyphics; Abnormal toenail morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Brachycephaly; Cataract; Cerebellar hypoplasia; Cerebral atrophy; Cerebral cortical atrophy; Clitoral hypoplasia; Congenital cataract; Cortical visual impairment; Cryptorchidism; Deeply set eye; Delayed puberty; Depressed nasal bridge; Everted lower lip vermilion; External genital hypoplasia; Facial hypertrichosis; Failure to thrive; Feeding difficulties in infancy; Furrowed tongue; Generalized hirsutism; Generalized hypotonia; Global developmental delay; High palate; Hyperlordosis; Hyperreflexia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplastic labia minora; Hypotelorism; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphoscoliosis; Kyphosis; Lissencephaly; Low posterior hairline; Low-set, posteriorly rotated ears; Macrotia; Malar flattening; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Midface retrusion; Misalignment of teeth; Muscular hypotonia; Optic atrophy; Osteoporosis; Pachygyria; Prematurely aged appearance; Ptosis; Scoliosis; Short nose; Short philtrum; Short stature; Spastic diplegia; Spasticity; Ulnar deviation of finger; Wide nasal bridge
RAB3GAP21q4198.48%gene with protein product609275Abnormal dermatoglyphics; Abnormal toenail morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of visual evoked potentials; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Asymmetry of the ears; Autosomal recessive inheritance; Brachycephaly; Broad fingertip; Broad nasal tip; Cardiomyopathy; Cataract; Cerebral cortical atrophy; Clitoral hypoplasia; Congenital cataract; Congestive heart failure; Cortical visual impairment; Cryptorchidism; Delayed puberty; Depressed nasal bridge; Downslanted palpebral fissures; Epicanthus; Everted lower lip vermilion; Feeding difficulties in infancy; Flexion contracture; Furrowed tongue; Generalized hirsutism; Global brain atrophy; Global developmental delay; High palate; Hyperlordosis; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypotelorism; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphosis; Lissencephaly; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrotia; Malar flattening; Metatarsus adductus; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Misalignment of teeth; Muscular hypotonia; Muscular hypotonia of the trunk; Optic atrophy; Overlapping toe; Pachygyria; Pectus carinatum; Pectus excavatum; Polymicrogyria; Posteriorly rotated ears; Postnatal growth retardation; Postnatal microcephaly; Prematurely aged appearance; Prominent antitragus; Prominent nasal bridge; Prominent nipples; Recurrent respiratory infections; Scoliosis; Scrotal hypoplasia; Severe global developmental delay; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short philtrum; Short stature; Short toe; Slender ulna; Spasticity; Talipes equinovarus; Talipes valgus; Tracheomalacia; Ulnar deviation of finger; Undetectable visual evoked potentials; Wide nasal bridge
RXYLT112q14.299.69%gene with protein product605862TMEM5Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Glaucoma; Global developmental delay; Gonadal dysgenesis; Hydrocephalus; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Optic atrophy; Pachygyria; Polymicrogyria; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Skeletal muscle atrophy; Specific learning disability; Type II lissencephalyMuscular dystropy-dystroglycanopathy (Walker-Warburg)
SLC25A1917q25.1100%gene with protein product606521MCPHAAgenesis of corpus callosum; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Congenital onset; Contractures of the joints of the lower limbs; Death in infancy; Difficulty walking; Feeding difficulties; Flexion contracture; Hepatomegaly; Hyporeflexia; Increased CSF lactate; Irritability; Lactic acidosis; Lethargy; Limb hypertonia; Lissencephaly; Metabolic acidosis; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Muscular hypotonia of the trunk; Optic atrophy; Organic aciduria; Osteoporosis; Paralysis; Partial agenesis of the corpus callosum; Peripheral axonal neuropathy; Polyneuropathy; Progressive microcephaly; Severe global developmental delay; Skeletal muscle atrophy; Sloping forehead; Spina bifida; Talipes equinovarus; Temperature instability; Ventriculomegaly
TBC1D2020p13100%gene with protein product611663C20orf140Abnormality of retinal pigmentation; Abnormality of visual evoked potentials; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Cataract; Cerebellar atrophy; Cerebral cortical atrophy; Clitoral hypoplasia; Congenital cataract; Cortical visual impairment; Cryptorchidism; Decreased muscle mass; Decreased testicular size; Deeply set eye; Delayed puberty; Flexion contracture; Frontoparietal polymicrogyria; Generalized hirsutism; Glaucoma; Global developmental delay; High palate; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplastic labia minora; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphosis; Lissencephaly; Low anterior hairline; Low-set, posteriorly rotated ears; Macrotia; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Narrow mouth; Optic atrophy; Pachygyria; Postnatal microcephaly; Ptosis; Scoliosis; Scrotal hypoplasia; Severe postnatal growth retardation; Short nose; Short philtrum; Short stature; Spastic tetraplegia; Spasticity; Wide nasal bridge
TUBA1A12q13.12100%gene with protein product602529Agenesis of corpus callosum; Ataxia; Autosomal dominant inheritance; Cerebellar vermis hypoplasia; Generalized hypotonia; Heterotopia; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability, severe; Lissencephaly; Microcephaly; Motor delay; Pachygyria; Polymicrogyria; Seizures; Spastic tetraplegia; Ventriculomegaly
TUBB2B6p25.291.67%gene with protein product612850Agenesis of corpus callosum; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebral palsy; Drooling; Frontoparietal cortical dysplasia; Gait disturbance; Global developmental delay; Hemiparesis; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Lissencephaly; Microcephaly; Motor delay; Muscular hypotonia; Pachygyria; Seizures; Short stature; Skeletal muscle atrophy; Specific learning disability; Strabismus; Unilateral polymicrogyria; Variable expressivity
TUBB316q24.3100%gene with protein product602661FEOM3Agenesis of corpus callosum; Amblyopia; Autosomal dominant inheritance; Compensatory chin elevation; Congenital fibrosis of extraocular muscles; Congenital onset; Cortical dysplasia; Exotropia; Global developmental delay; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability, moderate; Levator palpebrae superioris atrophy; Lissencephaly; Microcephaly; Muscular hypotonia of the trunk; Nonprogressive restrictive external ophthalmoplegia; Nystagmus; Phenotypic variability; Polymicrogyria; Ptosis; Spasticity; Strabismus; Superior rectus atrophy; Variable expressivity
WDR6219q13.12100%gene with protein product613583C19orf14, MCPH2Abnormal cortical bone morphology; Agenesis of corpus callosum; Aggressive behavior; Autosomal recessive inheritance; Congenital onset; Cortical gyral simplification; Decreased fetal movement; Delayed speech and language development; Global developmental delay; Hemiparesis; Heterotopia; Hyperactivity; Hyperreflexia; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Impulsivity; Intellectual disability; Intellectual disability, severe; Lissencephaly; Microcephaly; Pachygyria; Polymicrogyria; Schizencephaly; Seizures; Short stature; Sloping forehead; Spastic tetraparesis; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
YWHAE17p13.3100%gene with protein product605066Abnormality of the cardiovascular system; Abnormality of upper lip; Anteverted nares; Cerebral cortical atrophy; Downslanted palpebral fissures; EEG abnormality; Epicanthus; Frontal bossing; Global developmental delay; Growth delay; High forehead; Hypertelorism; Lissencephaly; Low-set ears; Muscular hypotonia; Narrow mouth; Polyhydramnios; Seizures; Short neck; Short nose; Wide nose


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