Ductal plate malformation
Gene: PKD1
Not aware of exceptions to loss of functionCreated: 25 Nov 2018, 8:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic liver; polycystic kidney; Caroli's disease
Publications
Mode of pathogenicity
Other
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: PKD1; 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: PKD1 is on the Eligibility statementCreated: 26 Nov 2018, 11:14 a.m.
Publications
Added phenotypes Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) for gene: PKD1 Publications for gene PKD1 were changed from 3178424; 9211343; 8554072 to 8554072; 3178424; 9211343
Source NHS GMS was added to PKD1.
Ivone Leong: Comment when marking as ready:
Gene: pkd1 has been classified as Green List (High Evidence).
Publications for gene: PKD1 were set to
Source Expert Review Green was added to PKD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: PKD1 was added gene: PKD1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Eligibility statement prior genetic testing,Expert list,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD1 were set to Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)