Ciliopathies
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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Potential phenotypic overlap with ciliopathies.
Created: 6 May 2020, 10:12 a.m. | Last Modified: 6 May 2020, 10:12 a.m.

Panel Version: 0.112

Created: 6 May 2020, 10:12 a.m.
Last Modified: 6 May 2020, 10:12 a.m.
Panel version: 0.112

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Not a ciliopathy gene.

PMID: 12529853; Li 2003: Reported 6 ADPLD families.
PMID: 19876928; Gunay-Aygun 2009: PRKCSH encodes for hepatocystin and is not ciliary proteins; involved in the ER processing of proteins
PMID: 21856269; Janssen 2011: 2 hit mechanism required for formation of cysts. Germline variant + LoH of PRKCSH, therefore is recessive at the cellular level.

UniProt: "Required for efficient Polycystin 1 biogenesis and trafficking to the plasma membrane of the primary cilia"
Created: 6 May 2020, 1:08 a.m. | Last Modified: 6 May 2020, 1:08 a.m.

Panel Version: 0.103

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

Phenotypes
Polycystic liver disease 1 (MIM#174050)

Publications

19876928

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 6 May 2020, 1:08 a.m.
Last Modified: 6 May 2020, 1:08 a.m.
Panel version: 0.103

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Polycystic liver disease 1 (MIM#174050)

OMIM

177060

Clinvar variants

Variants in PRKCSH

Penetrance

None

Publications

19876928

Mode of Pathogenicity

Other

Panels with this gene