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Genetic epilepsy syndromes

Gene: GAD1

Green List (high evidence)

GAD1 (glutamate decarboxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000128683
EnsemblGeneIds (GRCh37): ENSG00000128683
OMIM: 605363, Gene2Phenotype
GAD1 is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Cerebral palsy, spastic quadriplegic, 1 603513
  • Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele
OMIM
605363
Clinvar variants
Variants in GAD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2020, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

14 Apr 2020, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GAD1 were set to https://doi-org.ezproxy.library.qmul.ac.uk/10.1093/brain/awaa085

14 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gad1 has been classified as Green List (High Evidence).

14 Apr 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

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