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Early onset or syndromic epilepsy

Gene: GAD1

Green List (high evidence)

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

3 reviews

Helen Lord (Oxford Medical Genetics Laboratories)

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

Arina Puzriakova (Genomics England Curator)

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

Sarah Leigh (Genomics England Curator)

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

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

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: GAD1.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to GAD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Feb 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GAD1 were set to 15571623; 26503795; 24896178; 26350204; https://doi-org.ezproxy.library.qmul.ac.uk/10.1093/brain/awaa085

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: gad1 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: GAD1.

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