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DDG2P

Gene: GABRG1

Red List (low evidence)
GABRG1 (gamma-aminobutyric acid type A receptor gamma1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000163285
EnsemblGeneIds (GRCh37): ENSG00000163285
OMIM: 137166, Gene2Phenotype
GABRG1 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for GABRG1-related epileptic encephalopathy are limited, monoallelic_autosomal and undetermined (PMID:36121006). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03350.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease GABRG1-associated epileptic encephalopathy is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:36121006).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
GABRG1-associated epileptic encephalopathy; MONDO:0100062; GABRG1-related epileptic encephalopathy

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • GABRG1-associated epileptic encephalopathy
OMIM
137166
Clinvar variants
Variants in GABRG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: GABRG1 was changed from Other to None

4 Oct 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GABRG1 was added gene: GABRG1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GABRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRG1 were set to 36121006 Phenotypes for gene: GABRG1 were set to GABRG1-associated epileptic encephalopathy Mode of pathogenicity for gene: GABRG1 was set to Other