Intellectual disability
Gene: GABBR1

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)

I don't know

PMID:36103875 reported the identification of monoallelic de novo variants in four unrelated individuals presenting with motor and/or language delay, ranging from mild to severe, and in one case, epilepsy. Intellectual disability was present in two of four individuals, whereas ID was not documented in one patient.

This gene has been associated with relevant phenotypes in OMIM (MIM #620502) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Sources: Literature
Created: 19 Jul 2024, 4:45 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with language delay and variable cognitive abnormalities, OMIM:620502

Publications

36103875

Created: 19 Jul 2024, 4:45 p.m.

Panel version: 6.64

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Literature

Phenotypes

Neurodevelopmental disorder with language delay and variable cognitive abnormalities, OMIM:620502

OMIM

603540

Clinvar variants

Variants in GABBR1

Penetrance

None

Publications

36103875

Panels with this gene

History Filter Activity

19 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: gabbr1 has been classified as Amber List (Moderate Evidence).

19 Jul 2024, Gel status: 1

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