Early onset or syndromic epilepsy
Gene: GAD1
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
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
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: LiteratureCreated: 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
Tag for-review was removed from gene: GAD1.
Source Expert Review Green was added to GAD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: GAD1 were set to 15571623; 26503795; 24896178; 26350204; https://doi-org.ezproxy.library.qmul.ac.uk/10.1093/brain/awaa085
Gene: gad1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: GAD1.
Phenotypes for gene: GAD1 were changed from Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele to ?Cerebral palsy, spastic quadriplegic, 1 603513; Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele
Publications for gene: GAD1 were set to https://doi-org.ezproxy.library.qmul.ac.uk/10.1093/brain/awaa085
Gene: gad1 has been classified as Green List (High Evidence).
gene: GAD1 was added gene: GAD1 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAD1 were set to https://doi-org.ezproxy.library.qmul.ac.uk/10.1093/brain/awaa085 Phenotypes for gene: GAD1 were set to Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele Review for gene: GAD1 was set to GREEN