Adult onset neurodegenerative disorder
Gene: GAD1EnsemblGeneIds (GRCh38): ENSG00000128683
EnsemblGeneIds (GRCh37): ENSG00000128683
OMIM: 605363, Gene2Phenotype
GAD1 is in 9 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Onset in infancyCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebralpalsy,spasticquadriplegic,1, 603513
Details
- Mode of Inheritance
- Unknown
- Sources
-
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Red
- Phenotypes
-
- Cerebralpalsy,spasticquadriplegic,1,603513
- OMIM
- 605363
- Clinvar variants
- Variants in GAD1
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- Hereditary spastic paraplegia
- DDG2P
- Intellectual disability
- Adult onset hereditary spastic paraplegia
- COVID-19 research
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GAD1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to GAD1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: GAD1 was added gene: GAD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: GAD1 was set to Unknown Phenotypes for gene: GAD1 were set to Cerebralpalsy,spasticquadriplegic,1,603513