Intellectual disability update Jan 2018
Gene: GABRQ

GABRQ (gamma-aminobutyric acid type A receptor theta subunit)
EnsemblGeneIds (GRCh38): ENSG00000268089
EnsemblGeneIds (GRCh37): ENSG00000147402
OMIM: 300349, Gene2Phenotype
GABRQ is in 1 panel

2 reviews

Eleanor Williams (Genomics England Curator)

Created: 1 Mar 2018, 4:23 p.m.

Panel version: 0.247

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: No gene / phenotype association listed in OMIM or G2P. The phenotypes listed are from the publications PMID 25574603; 23169495;20479760
Created: 1 Mar 2018, 4:29 p.m.

Not associated with phenotype in OMIM or G2P. Variants have been reported in ASD, schizophrenia, migraine, but these phenotypes are not relevant to the ID panel. Reported as a candidate gene in PMID 26350204
Created: 1 Mar 2018, 3:55 p.m.

Created: 1 Mar 2018, 3:55 p.m.

Panel version: 0.246

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red

Phenotypes

ASD
schizophrenia
migraine

OMIM

300349

Clinvar variants

Variants in GABRQ

Penetrance

None

Publications

Panels with this gene

Intellectual disability