Cystic kidney disease
Gene: PRKCSH

PRKCSH (protein kinase C substrate 80K-H)
EnsemblGeneIds (GRCh38): ENSG00000130175
EnsemblGeneIds (GRCh37): ENSG00000130175
OMIM: 177060, Gene2Phenotype
PRKCSH is in 6 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 10:02 a.m. | Last Modified: 3 May 2024, 10:02 a.m.

Panel Version: 5.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 3 May 2024, 10:02 a.m.
Last Modified: 3 May 2024, 10:02 a.m.
Panel version: 5.3

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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

24886261

Created: 19 Sep 2023, 8:21 p.m.
Last Modified: 19 Sep 2023, 8:29 p.m.
Panel version: 4.6

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

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

Created: 1 Sep 2023, 1:45 p.m.
Last Modified: 1 Sep 2023, 1:48 p.m.
Panel version: 4.6

Miranda Durkie (Genetics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Polycystic Liver Disease

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Ellen Thomas (Genomics England Curator)

Comment on list classification: Polycystic liver disease
Created: 10 May 2016, 12:35 p.m.

Created: 10 May 2016, 12:35 p.m.

Panel version: 0.41

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Expert

Phenotypes

Polycystic liver disease 1 with or without kidney cysts, OMIM:174050

OMIM

177060

Clinvar variants

Variants in PRKCSH

Penetrance

Complete

Publications

Panels with this gene