Hereditary spastic paraplegia
Gene: GAD1
GAD1 (glutamate decarboxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000128683
EnsemblGeneIds (GRCh37): ENSG00000128683
OMIM: 605363, Gene2Phenotype
GAD1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000128683
EnsemblGeneIds (GRCh37): ENSG00000128683
OMIM: 605363, Gene2Phenotype
GAD1 is in 9 panels
1 review
Chris Buxton (North Bristol NHS Trust)
Homozygous missense sefgregating with disease in two families. No common haplotype (hence not founder effect).
No functional studies; Lynex (2007)Created: 27 Nov 2018, 10:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral palsy; spastic; symmetric
Publications
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cerebralpalsy,spasticquadriplegic,1,603513
- OMIM
- 605363
- Clinvar variants
- Variants in GAD1
- Penetrance
- Complete
- Panels with this gene
-
- Neurodegenerative disorders, adult onset
- Early onset or syndromic epilepsy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary spastic paraplegia, adult onset
- Intellectual disability
- Hereditary spastic paraplegia
- Hereditary spastic paraplegia, childhood onset
- COVID-19 research
- DDG2P
History Filter Activity
9 Mar 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GAD1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen