Early onset or syndromic epilepsy

Gene: GAD1

Green List (high evidence)

Neuray et al, 2020 - 6 affected individuals from 6 unrelated families wih biallelic GAD1, presenting with developmental and epileptic encephalopathy - characterised by EIEE.
Chatron et al, 2020 - 11 patients from 6 independent consanguineous families - seizure onset in first 2 months of life in all patients. 4 patients died before 4 years of age.

Created: 29 Jan 2021, 2:34 p.m. | Last Modified: 29 Jan 2021, 2:34 p.m.

Panel Version: 2.281

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 320705143
• 32282878

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).

Created: 20 Oct 2020, 3:49 p.m. | Last Modified: 20 Oct 2020, 3:49 p.m.

Panel Version: 2.192

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.

Panel Version: 2.491

Five biallelic loss of function variants reported in 11 cases in 6 unrelated families. All cases had epilepsy syndrome, 10 profound intellectual disabilty (1 case died at day 9 of life) and other nuerological and developement features. Supportive functional studies were also presented.
Sources: Literature

Created: 14 Apr 2020, 10:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele

Publications

• https://doi-org.ezproxy.library.qmul.ac.uk/10.1093/brain/awaa085