Childhood 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
Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.Created: 8 Jan 2019, 3:26 p.m.
Mode of inheritance for gene: KLC4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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
Rebecca Foulger: Comment on list classification
Gene: klc4 has been classified as Red List (Low Evidence).
Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia
gene: KLC4 was added gene: KLC4 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: KLC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLC4 were set to 26423925 Phenotypes for gene: KLC4 were set to spastic paraplegia