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  3. GAD1
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Aminoacidopathy

Gene: GAD1

Green List (high evidence)
GAD1 (glutamate decarboxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000128683
EnsemblGeneIds (GRCh37): ENSG00000128683
OMIM: 605363, Gene2Phenotype
GAD1 is in 6 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/05/2021 - https://search.clinicalgenome.org/CCID:004907

Established gene-disease association with multiple reported individuals having a metabolic abnormality. Mouse models were performed that recapitulated the human phenotype.
Sources: ClinGen
Created: 24 May 2024, 1:51 a.m. | Last Modified: 24 May 2024, 1:51 a.m.
Panel Version: 1.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
obsolete early infantile epileptic encephalopathy MONDO:0016021

Publications

Created: 24 May 2024, 1:51 a.m.
Last Modified: 24 May 2024, 1:51 a.m.
Panel version: 1.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 89, MIM# 619124
OMIM
605363
Clinvar variants
Variants in GAD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GAD1 were changed from obsolete early infantile epileptic encephalopathy MONDO:0016021 to Developmental and epileptic encephalopathy 89, MIM# 619124

24 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 May 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: GAD1 was added gene: GAD1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAD1 were set to 28454995; 31144778; 32282878; 15571623; 32705143; 9177246; 9326630; 20333300 Phenotypes for gene: GAD1 were set to obsolete early infantile epileptic encephalopathy MONDO:0016021 Review for gene: GAD1 was set to GREEN