Ductal plate malformation
Gene: PRKCSHEnsemblGeneIds (GRCh38): ENSG00000130175
EnsemblGeneIds (GRCh37): ENSG00000130175
OMIM: 177060, Gene2Phenotype
PRKCSH is in 6 panels
2 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PRKCSH; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 8 Jan 2019, 9:38 a.m.
Comment when marking as ready: PRKCSH is confirmed as the causative gene for polycystic liver disease 1 on OMIM and listed as a causative gene in GeneReviews.Created: 26 Nov 2018, 1:53 p.m.
Comment on publications: Four studies reporting on 6 different patients who have polycystic liver disease with different variants in PRKCSH.Created: 26 Nov 2018, 1:52 p.m.
Bill Griffiths (Cambridge University Hospitals)
Not aware of exceptions to loss of functionCreated: 25 Nov 2018, 9:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic liver; kidney cysts; pancreatic cysts
Publications
- PMID: 12529853
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- 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
Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Added phenotypes Polycystic Liver Disease 1 with or without kidney cysts (174050) for gene: PRKCSH Publications for gene PRKCSH were changed from 12529853; 12577059; 11047756; 29038287 to 11047756; 29038287; 12529853; 12577059
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PRKCSH.
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Bill Griffiths: Not aware of exceptions to los
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: prkcsh has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: PRKCSH were set to 12529853
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: prkcsh has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: PRKCSH were set to
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: PRKCSH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PRKCSH was added gene: PRKCSH was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKCSH were set to Polycystic Liver Disease 1 with or without kidney cysts (174050)