Polycystic liver disease interim

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

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 12 Mar 2019, 11:27 a.m.
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 given
Created: 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)

Green List (high evidence)

Not aware of exceptions to loss of function
Created: 25 Nov 2018, 9:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic liver; kidney cysts; pancreatic cysts

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • NHS GMS
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Polycystic liver disease 1 OMIM:174050
OMIM
177060
Clinvar variants
Variants in PRKCSH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

12 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

12 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: PRKCSH was added gene: PRKCSH was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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)