Renal Macrocystic Disease
Gene: PRKCSH

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

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

CLINGEN assessed as DEFINITIVE (2020)
Kidney cysts are present in approximately 28-35% of cases with absent to mild kidney disease and no association with progression to end stage renal disease.
Created: 25 Nov 2022, 4:38 a.m. | Last Modified: 25 Nov 2022, 4:38 a.m.

Panel Version: 0.58

Created: 25 Nov 2022, 4:38 a.m.
Last Modified: 25 Nov 2022, 4:38 a.m.
Panel version: 0.58

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Well established gene-disease relationship, >50 reported families. Liver cystic disease predominates the clinical presentation, generally a small number of kidney cysts.
Created: 27 May 2020, 9:28 p.m. | Last Modified: 27 May 2020, 9:32 p.m.

Panel Version: 0.28

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic liver disease 1, MIM# 174050, with or without kidney cysts

Publications

12577059

Created: 27 May 2020, 9:28 p.m.
Last Modified: 27 May 2020, 9:32 p.m.
Panel version: 0.30

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
KidGen_Cystic v38.1.0

Phenotypes

Polycystic liver disease 1, MIM# 174050, with or without kidney cysts

OMIM

177060

Clinvar variants

Variants in PRKCSH

Penetrance

None

Publications

12577059

Panels with this gene

History Filter Activity

25 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: prkcsh has been classified as Green List (High Evidence).

27 May 2020, Gel status: 2