Ductal plate malformation
Gene: PKHD1
Not aware of exceptions to loss of functionCreated: 25 Nov 2018, 9:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic kidney; liver cysts; congenital hepatic fibrosis; Caroli's disease; biliary dysplasia
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: PKHD1; 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: PKHD1 is on the Eligibility statement and received a green review from Bill Griffiths (Cambridge University Hospitals).Created: 26 Nov 2018, 12:02 p.m.
Comment on mode of inheritance: Changed from Biallelic to Both monoallelic and biallelic as a paper (PMID:30211211) provided by Bill Griffiths (Cambridge University Hospitals) reported 2 probands who have Ductal plate malformation with different heterozygous variants (1 a small deletion and another a missense variant) in the PKHD1 gene, suggesting an dominant mode of inheritance. Previous publications have reported recessive variants.Created: 26 Nov 2018, 12:01 p.m.
Green gene on the Rare multisystem ciliopathy disorders (Version 1.78). It is a confirmed causative gene for Polycystic kidney disease 4 with or without hepatic disease on Gene2Phenotype. There are 4 probands with LOF mutations and have liver cysts and there are murine models that support this.Created: 12 Nov 2018, 1:55 p.m.
Publications
Added phenotypes Polycystic kidney disease 4 with or without hepatic disease (263200) for gene: PKHD1 Publications for gene PKHD1 were changed from 28862642; 11337358; 11135065; 11919560; 30211211 to 11135065; 30211211; 11919560; 28862642; 11337358
Source NHS GMS was added to PKHD1.
Ivone Leong: Green gene on the Rare multisy
Gene: pkhd1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: PKHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PKHD1 were set to
Source Expert Review Green was added to PKHD1.
gene: PKHD1 was added gene: PKHD1 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: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4 with or without hepatic disease (263200)