GABRA1

gamma-aminobutyric acid type A receptor alpha1 subunit
OMIM: 137160, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green GABRA1 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 19 615744 Rett syndrome Rett-like phenotypes idiopathic generalized Epilepsy Dravet syndrome
Green GABRA1 in Neurotransmitter Defects Level 2: Neurology and neurodevelopmental disorders Version 1.7 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 19, MIM# 615744
Green GABRA1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 19 615744 Rett syndrome Rett-like phenotypes idiopathic generalized Epilepsy Dravet syndrome
Green GABRA1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 19 615744 Rett syndrome Rett-like phenotypes idiopathic generalized Epilepsy Dravet syndrome
Red GABRA1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Epilepsy, idiopathic generalised
Red GABRA1 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 19 615744 Rett syndrome Rett-like phenotypes idiopathic generalized Epilepsy Dravet syndrome
Green GABRA1 in Familial Generalised Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.14	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources GREP Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes {Epilepsy, childhood absence, susceptibility to, 4} 611136
Red GABRA1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy, idiopathic generalised