Unexplained young onset end-stage renal disease
Gene: PRKCSH
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.Created: 11 Jan 2024, 1:58 p.m. | Last Modified: 11 Jan 2024, 1:58 p.m.
Panel Version: 3.23
A subset of patients (28-35%) with PCLD1 may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (PMID:24886261).Created: 11 Jan 2024, 1:54 p.m. | Last Modified: 11 Jan 2024, 1:54 p.m.
Panel Version: 3.21
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic liver disease 1 with or without kidney cysts, OMIM:174050
Publications
Check of rating - currently red on all renal panels, green on Polycystic liver disease panel.Created: 25 Sep 2019, 1:35 p.m. | Last Modified: 25 Sep 2019, 1:35 p.m.
Panel Version: 0.43
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
Comment on list classification: Polycystic liver diseaseCreated: 10 May 2016, 12:35 p.m.
Tag Q4_23_promote_green tag was added to gene: PRKCSH.
Phenotypes for gene: PRKCSH were changed from to Polycystic liver disease 1 with or without kidney cysts, OMIM:174050
Publications for gene: PRKCSH were set to
Gene: prkcsh has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: PRKCSH was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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