Cystic kidney disease
Gene: PRKCSH
Comment on list classification: As reviewed by Ian Berry, this gene should be considered for green rating in this panel in the next GMS review as there are sufficient cases of polycystic liver disease 1 with both renal and hepatic cysts.Created: 19 Sep 2023, 8:26 p.m. | Last Modified: 19 Sep 2023, 8:29 p.m.
Panel Version: 4.10
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: 19 Sep 2023, 8:21 p.m. | Last Modified: 19 Sep 2023, 8:21 p.m.
Panel Version: 4.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic liver disease 1 with or without kidney cysts, OMIM:174050
Publications
Phenotype is predominantly hepatic but can involve renal cysts.
We have seen 2x patients with pathogenic findings in this gene through R193 referrals therefore it makes sense to be on this panel. R193 referrals frequently have both renal & hepatic cysts.
OMIM disorder name is polycystic liver disease-1 with or without kidney cysts (PCLD1)Created: 1 Sep 2023, 1:45 p.m. | Last Modified: 1 Sep 2023, 1:48 p.m.
Panel Version: 4.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: Polycystic liver diseaseCreated: 10 May 2016, 12:35 p.m.
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 12529853; 12577059; 24886261
Publications for gene: PRKCSH were set to
Mode of inheritance for gene: PRKCSH was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: prkcsh has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: PRKCSH. Tag Q3_23_NHS_review tag was added to gene: PRKCSH.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
PRKCSH was added to Cystic kidney diseasepanel. Sources: Expert