Cystic kidney disease

Gene: PRKCSH

Green List (high evidence)

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

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

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

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

Ellen Thomas (Genomics England Curator)

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

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

History Filter Activity

3 May 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: PRKCSH. Tag Q3_23_NHS_review was removed from gene: PRKCSH.

3 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to PRKCSH. Source NHS GMS was added to PRKCSH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Sep 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: PRKCSH were changed from to Polycystic liver disease 1 with or without kidney cysts, OMIM:174050

19 Sep 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: PRKCSH were set to 12529853; 12577059; 24886261

19 Sep 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: PRKCSH were set to

19 Sep 2023, Gel status: 2

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: PRKCSH was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: prkcsh has been classified as Amber List (Moderate Evidence).

19 Sep 2023, Gel status: 1

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green tag was added to gene: PRKCSH. Tag Q3_23_NHS_review tag was added to gene: PRKCSH.

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

15 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PRKCSH was added to Cystic kidney diseasepanel. Sources: Expert