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  3. GABBR1
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DDG2P

Gene: GABBR1

Green List (high evidence)
GABBR1 (gamma-aminobutyric acid type B receptor subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000204681
EnsemblGeneIds (GRCh37): ENSG00000204681
OMIM: 603540, Gene2Phenotype
GABBR1 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for GABBR1-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:36103875). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03347.
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 GABBR1-associated neurodevelopmental disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:36103875).
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
GABBR1-related neurodevelopmental disorder; OMIM:620502.0; GABBR1-associated neurodevelopmental disorder; MONDO:0957779

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
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GABBR1-associated neurodevelopmental disorder
OMIM
603540
Clinvar variants
Variants in GABBR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: GABBR1 was changed from Other to None

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GABBR1 was added gene: GABBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABBR1 were set to 36103875 Phenotypes for gene: GABBR1 were set to GABBR1-associated neurodevelopmental disorder Mode of pathogenicity for gene: GABBR1 was set to Other