Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Hereditary spastic paraplegia, adult onset v0.105 KLC4 Louise Daugherty Mode of inheritance for gene: KLC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, adult onset v0.55 KLC4 Louise Daugherty Source NHS GMS was added to KLC4.
Hereditary spastic paraplegia, adult onset v0.54 KLC4 Louise Daugherty Source Yorkshire and North East GLH was added to KLC4.
Hereditary spastic paraplegia, adult onset v0.53 KLC4 Nick Beauchamp reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: None; Publications: 26423925; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, adult onset v0.42 KLC4 Louise Daugherty reviewed gene: KLC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, adult onset v0.30 KLC4 Louise Daugherty Added phenotypes spastic paraplegia; progressive complicated spastic paraplegia for gene: KLC4
Publications for gene KLC4 were changed from to 26423925
Hereditary spastic paraplegia, adult onset v0.29 KLC4 Chris Buxton reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: ; Publications: 26423925; Phenotypes: spastic paraplegia, progressive complicated spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary spastic paraplegia, adult onset v0.28 KLC4 Louise Daugherty 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