Intellectual disability update Jan 2018
Gene: GAD1

GAD1 (glutamate decarboxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000128683
EnsemblGeneIds (GRCh37): ENSG00000128683
OMIM: 605363, Gene2Phenotype
GAD1 is in 9 panels

1 review

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM and as a possible G2P association. At least 1 variant reported in 4 affected siblings of a consanguineous family.
Reported as associated with an ID phenotype in PMID 26503795 and as a candidate gene in PMIDs 24896178 and 26350204
Created: 1 Mar 2018, 4:46 p.m.

Created: 1 Mar 2018, 4:46 p.m.

Panel version: 0.252

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

?Cerebral palsy, spastic quadriplegic, 1 603513

OMIM

605363

Clinvar variants

Variants in GAD1

Penetrance

None

Panels with this gene

History Filter Activity

1 Mar 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GAD1 were set to ?Cerebral palsy, spastic quadriplegic, 1 603513

1 Mar 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for GAD1 was changed from to BIALLELIC, autosomal or pseudoautosomal

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GAD1 was added to Intellectual disability update Jan 2018 panel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red