Adult onset hereditary spastic paraplegia
Gene: KLC4
Single family, childhood onset. No additional patients identified using Sheffield panel.Created: 10 May 2019, 12:46 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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
spastic paraplegia; progressive complicated spastic paraplegia
Publications
Mode of inheritance for gene: KLC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to KLC4.
Source Yorkshire and North East GLH was added to KLC4.
Added phenotypes spastic paraplegia; progressive complicated spastic paraplegia for gene: KLC4 Publications for gene KLC4 were changed from to 26423925
gene: KLC4 was added gene: KLC4 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: KLC4 was set to