Hereditary spastic paraplegia
Gene: KLC4Comment on list classification: Kept rating as Red. Gene was added to panel and rated Red by Chris Buxton (Bristol NHS). As the reviewer notes, there is currently 1 family from 1 paper (PMID:26423925).Created: 8 Jan 2019, 3:24 p.m.
PMID:26423925 (Bayrakli et al., 2015) report 3 patients from the same family with common features of progressive complicated spastic paraplegia. They shared a homozygous variant (c.853_871del19) in the KLC4 gene. The unaffected parents and two siblings were heterozygous and one sibling was homozygous wild type.Created: 8 Jan 2019, 3:23 p.m.
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 2:12 p.m.
Bayrakli (2015, 26423925). Affected, homozygous fs in three individuals in the same family.
One family, limited evidence
Diagnostic on Sheffield HSP panel
Sources: LiteratureCreated: 27 Nov 2018, 5:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
spastic paraplegia
Publications
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 has been classified as Red List (Low Evidence).
gene: KLC4 was added gene: KLC4 was added to Hereditary spastic paraplegia. Sources: 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 Penetrance for gene: KLC4 were set to Complete Review for gene: KLC4 was set to RED