Hereditary spastic paraplegia

Gene: GAD1

Red List (low evidence)

GAD1 (glutamate decarboxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000128683
EnsemblGeneIds (GRCh37): ENSG00000128683
OMIM: 605363, Gene2Phenotype
GAD1 is in 7 panels

1 review

Chris Buxton (North Bristol NHS Trust)

Red List (low evidence)

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

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