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  3. GABRA1
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Neurotransmitter Defects

Gene: GABRA1

Green List (high evidence)
GABRA1 (gamma-aminobutyric acid type A receptor alpha1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000022355
EnsemblGeneIds (GRCh37): ENSG00000022355
OMIM: 137160, Gene2Phenotype
GABRA1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene encodes GABA receptor.
Created: 23 Aug 2020, 7:19 a.m. | Last Modified: 23 Aug 2020, 7:19 a.m.
Panel Version: 0.32

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 19, MIM# 615744

Publications

Created: 23 Aug 2020, 7:19 a.m.
Last Modified: 23 Aug 2020, 7:19 a.m.
Panel version: 0.32

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 19, MIM# 615744
OMIM
137160
Clinvar variants
Variants in GABRA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gabra1 has been classified as Green List (High Evidence).

23 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19, MIM# 615744

23 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GABRA1 were set to

23 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GABRA1 was added gene: GABRA1 was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GABRA1 was set to Unknown