Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Early-onset Dementia v1.14 VPS13C Bryony Thompson Marked gene: VPS13C as ready
Early-onset Dementia v1.14 VPS13C Bryony Thompson Gene: vps13c has been classified as Green List (High Evidence).
Early-onset Dementia v1.14 VPS13C Bryony Thompson Classified gene: VPS13C as Green List (high evidence)
Early-onset Dementia v1.14 VPS13C Bryony Thompson Gene: vps13c has been classified as Green List (High Evidence).
Early-onset Dementia v1.14 VPS13C Bryony Thompson Classified gene: VPS13C as Green List (high evidence)
Early-onset Dementia v1.14 VPS13C Bryony Thompson Gene: vps13c has been classified as Green List (High Evidence).
Early-onset Dementia v1.13 VPS13C Bryony Thompson gene: VPS13C was added
gene: VPS13C was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: VPS13C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13C were set to 33579389; 37330543; 34875562
Phenotypes for gene: VPS13C were set to autosomal recessive early-onset Parkinson disease 23 MONDO:0014796
Review for gene: VPS13C was set to GREEN
gene: VPS13C was marked as current diagnostic
Added comment: Multiple cases with biallelic variants and dementia with Lewy bodies have been reported.
Sources: Literature