Ductal plate malformation
Gene: PRKCSH
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
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
Source NHS GMS was added to PRKCSH.
Bill Griffiths: Not aware of exceptions to los
Gene: prkcsh has been classified as Green List (High Evidence).
Publications for gene: PRKCSH were set to 12529853
Gene: prkcsh has been classified as Green List (High Evidence).
Publications for gene: PRKCSH were set to
Mode of inheritance for gene: PRKCSH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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)