Adult onset hereditary spastic paraplegia
Gene: GAD1
Two families currently. Childhood onset. No further patients identified using Sheffield panel.Created: 10 May 2019, 12:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 27 Apr 2019, 4:30 p.m.
see current PA review statusCreated: 27 Apr 2019, 4:17 p.m.
Phenotypes
Cerebralpalsy,spasticquadriplegic,1, 603513
Phenotypes for gene: GAD1 were changed from Cerebralpalsy,spasticquadriplegic,1, 603513 to Cerebralpalsy, spasticquadriplegic,1, 603513
Publications for gene: GAD1 were set to
Mode of inheritance for gene: GAD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to GAD1.
Source Yorkshire and North East GLH was added to GAD1.
Gene: gad1 has been classified as Amber List (Moderate Evidence).
Added phenotypes Cerebralpalsy,spasticquadriplegic,1, 603513 for gene: GAD1
gene: GAD1 was added gene: GAD1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: GAD1 was set to