Ductal plate malformation
Gene: PKD2
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: PKD2; 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.
There are >3 unrelated families with variants in this gene and it is a green gene on the Rare multisystem ciliopathy disorders (Version 1.78).Created: 30 Nov 2018, 2:15 p.m.
Comment when marking as ready: PKD2 is on the Eligibility statementCreated: 26 Nov 2018, 11:43 a.m.
Not aware of exceptions to loss of functionCreated: 25 Nov 2018, 8:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic kidney disease; liver cysts
Publications
Mode of pathogenicity
Other
Added phenotypes Polycystic Kidney Disease 2 with or without polycystic liver disease (613095) for gene: PKD2
Source NHS GMS was added to PKD2.
Bill Griffiths: Not aware of exceptions to los
Gene: pkd2 has been classified as Green List (High Evidence).
Publications for gene: PKD2 were set to
gene: PKD2 was added gene: PKD2 was added to Ductal plate malformation (DPM). Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD2 were set to Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)