Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Childhood onset hereditary spastic paraplegia v1.82 KLC4 Louise Daugherty Mode of inheritance for gene: KLC4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.76 KLC4 Louise Daugherty Source NHS GMS was added to KLC4.
Childhood onset hereditary spastic paraplegia v1.75 KLC4 Louise Daugherty Source Yorkshire and North East GLH was added to KLC4.
Childhood onset hereditary spastic paraplegia v1.74 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
Childhood onset hereditary spastic paraplegia v1.3 KLC4 Louise Daugherty Added phenotypes spastic paraplegia; progressive complicated spastic paraplegia for gene: KLC4
Childhood onset hereditary spastic paraplegia v0.50 KLC4 Rebecca Foulger Classified gene: KLC4 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v0.50 KLC4 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.50 KLC4 Rebecca Foulger Gene: klc4 has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v0.49 KLC4 Rebecca Foulger Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.6 KLC4 Sarah Leigh 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