Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Cholestasis v0.21 VPS33B Ivone Leong Marked gene: VPS33B as ready
Cholestasis v0.21 VPS33B Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Cholestasis v0.21 VPS33B Ivone Leong Gene: vps33b has been classified as Green List (High Evidence).
Cholestasis v0.10 VPS33B Ivone Leong Source Other was added to VPS33B.
Mode of inheritance for gene VPS33B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes arthrogryposis-renal-cholestasis syndrome; Arthrogryposis, renal dysfunction, and cholestasis 1, 208085; Arthrogryposis, Renal Dysfunction, and Cholestasis 1; Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome; ARC syndrome; Neonatal and Adult Cholestasis; Arthrogryposis, Renal Dysfunction, And Cholestasis 1 for gene: VPS33B
Cholestasis v0.4 VPS33B Ivone Leong Source Expert Review Green was added to VPS33B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.3 VPS33B Ivone Leong reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.2 VPS33B Ivone Leong gene: VPS33B was added
gene: VPS33B was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: VPS33B was set to