Polycystic liver disease
Gene: PRKCSHEnsemblGeneIds (GRCh38): ENSG00000130175
EnsemblGeneIds (GRCh37): ENSG00000130175
OMIM: 177060, Gene2Phenotype
PRKCSH is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 19 Jul 2021, 3:03 a.m. | Last Modified: 19 Jul 2021, 3:03 a.m.
Panel Version: 0.27
Sources: Expert listCreated: 4 Aug 2020, 12:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic Liver Disease 1 with or without kidney cysts (174050)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Polycystic Liver Disease 1 with or without kidney cysts (174050)
- OMIM
- 177060
- Clinvar variants
- Variants in PRKCSH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: prkcsh has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: prkcsh has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PRKCSH was added gene: PRKCSH was added to Polycystic liver disease. Sources: Expert list Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKCSH were set to 11047756; 29038287; 12529853; 12577059 Phenotypes for gene: PRKCSH were set to Polycystic Liver Disease 1 with or without kidney cysts (174050) Review for gene: PRKCSH was set to GREEN