Clinical and research tests for epilepsy - Genetic Testing Registry (GTR)

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Select all conditions on this page	Gene symbol	Associated conditionsHelp Conditions and phenotypes associated with each gene as reported by OMIM, GeneReviews and Gene
Select item 18	ABAT Tests	Gamma-aminobutyric acid transaminase deficiency
Select item 6833	ABCC8 Tests	Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Permanent neonatal diabetes mellitus Type II diabetes mellitus
Select item 60	ACTB Tests	Baraitser-Winter syndrome 1 Becker nevus syndrome Developmental malformations-deafness-dystonia syndrome Thrombocytopenia 8, with dysmorphic features and developmental delay
Select item 166378	AFG2A Tests	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Select item 79029	AFG2B Tests	Hearing loss, autosomal recessive 119 Neurodevelopmental disorder with hearing loss and spasticity
Select item 10939	AFG3L2 Tests	Optic atrophy 12 Spastic ataxia 5 Spinocerebellar ataxia type 28
Select item 10000	AKT3 Tests	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Select item 7915	ALDH5A1 Tests	Succinate-semialdehyde dehydrogenase deficiency
Select item 501	ALDH7A1 Tests	Pyridoxine-dependent epilepsy
Select item 199857	ALG14 Tests	Congenital myasthenic syndrome 15 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies Myopathy, epilepsy, and progressive cerebral atrophy
Select item 60529	ALX4 Tests	Craniosynostosis 5, susceptibility to Frontonasal dysplasia with alopecia and genital anomaly Parietal foramina 2
Select item 23600	AMACR Tests	Alpha-methylacyl-CoA racemase deficiency Congenital bile acid synthesis defect 4
Select item 275	AMT Tests	Glycine encephalopathy 2 Non-ketotic hyperglycinemia
Select item 288	ANK3 Tests	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
Select item 10297	APC2 Tests	Cortical dysplasia, complex, with other brain malformations 10 Intellectual developmental disorder, autosomal recessive 74
Select item 23229	ARHGEF9 Tests	Developmental and epileptic encephalopathy, 8
Select item 64801	ARV1 Tests	Developmental and epileptic encephalopathy, 38
Select item 170302	ARX Tests	Corpus callosum agenesis-abnormal genitalia syndrome Developmental and epileptic encephalopathy, 1 Intellectual disability, X-linked, with or without seizures, arx-related Partington syndrome X-linked lissencephaly with abnormal genitalia
Select item 427	ASAH1 Tests	Farber lipogranulomatosis Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Select item 471	ATIC Tests	AICA-ribosiduria

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