Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Unexplained young onset end-stage renal disease v3.25 PRKCSH Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: PRKCSH.
Unexplained young onset end-stage renal disease v3.25 PRKCSH Achchuthan Shanmugasundram Phenotypes for gene: PRKCSH were changed from to Polycystic liver disease 1 with or without kidney cysts, OMIM:174050
Unexplained young onset end-stage renal disease v3.24 PRKCSH Achchuthan Shanmugasundram Publications for gene: PRKCSH were set to
Unexplained young onset end-stage renal disease v3.23 PRKCSH Achchuthan Shanmugasundram Classified gene: PRKCSH as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v3.23 PRKCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: As this gene has been tagged for promotion to green rating in 'Cystic kidney disease' panel (https://panelapp.genomicsengland.co.uk/panels/283/gene/PRKCSH/), this gene should be promoted to green rating in this panel as well.
Unexplained young onset end-stage renal disease v3.23 PRKCSH Achchuthan Shanmugasundram Gene: prkcsh has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v3.22 PRKCSH Achchuthan Shanmugasundram Mode of inheritance for gene: PRKCSH was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 PRKCSH Achchuthan Shanmugasundram reviewed gene: PRKCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24886261; Phenotypes: Polycystic liver disease 1 with or without kidney cysts, OMIM:174050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v0.43 PRKCSH Eleanor Williams commented on gene: PRKCSH: Check of rating - currently red on all renal panels, green on Polycystic liver disease panel.
Unexplained young onset end-stage renal disease v0.2 PRKCSH Eleanor Williams reviewed gene: PRKCSH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 PRKCSH Eleanor Williams gene: PRKCSH was added
gene: PRKCSH was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: PRKCSH was set to BIALLELIC, autosomal or pseudoautosomal