Polycystic liver disease
Gene: PRKCSH
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 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.
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
Mode of pathogenicity
Other
Phenotypes for gene: PRKCSH were changed from Polycystic Liver Disease 1 with or without kidney cysts (174050) to Polycystic liver disease 1 OMIM:174050
Gene: prkcsh has been classified as Green List (High Evidence).
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)