Adult onset neurodegenerative disorder
Gene: KLC4
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Single family with childhood onset spastic paraplegia. No additional patients identified using Sheffield panel.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
spastic paraplegia; progressive complicated spastic paraplegia
Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.Created: 8 Jan 2019, 3:25 p.m.
Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.Created: 20 Dec 2018, 3:11 p.m.
Gene awaiting curator evaluation on the Hereditary spastic paraplegia v1.128 panel. Gene was added to the HSP panel and rated Red by Chris Buxton.Created: 20 Dec 2018, 10:31 a.m.
Source NHS GMS was added to KLC4.
Source Yorkshire and North East GLH was added to KLC4.
Rebecca Foulger: Gene awaiting curator evaluati
Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia
Gene: klc4 has been classified as Red List (Low Evidence).
Gene: klc4 has been classified as Red List (Low Evidence).
Gene: klc4 has been removed from the panel.
gene: KLC4 was added gene: KLC4 was added to Neurodegenerative disorders - adult onset. Sources: Expert list 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