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DDG2P

Gene: GABRA1

Amber List (moderate evidence)

GABRA1 (gamma-aminobutyric acid type A receptor alpha1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000022355
EnsemblGeneIds (GRCh37): ENSG00000022355
OMIM: 137160, Gene2Phenotype
GABRA1 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable (for all listed disorders). Multiple MOPs in DD-G2P download: all missense/in frame, loss of function.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • JUVENILE MYOCLONIC EPILEPSY 611136
  • EPILEPTIC ENCEPHALOPATHY
OMIM
137160
Clinvar variants
Variants in GABRA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: GABRA1 Publications for gene GABRA1 were changed from 11992121 to 23934111

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: GABRA1 was added gene: GABRA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRA1 were set to 11992121 Phenotypes for gene: GABRA1 were set to JUVENILE MYOCLONIC EPILEPSY 611136