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  3. PKD1
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Ductal plate malformation

Gene: PKD1

Green List (high evidence)
PKD1 (polycystin 1, transient receptor potential channel interacting)
EnsemblGeneIds (GRCh38): ENSG00000008710
EnsemblGeneIds (GRCh37): ENSG00000008710
OMIM: 601313, Gene2Phenotype
PKD1 is in 11 panels

2 reviews

Bill Griffiths (Cambridge University Hospitals)

Green List (high evidence)

Not aware of exceptions to loss of function
Created: 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

Created: 25 Nov 2018, 8:44 a.m.

Panel version: 0.35

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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 given
Created: 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 statement
Created: 26 Nov 2018, 11:14 a.m.

Publications

Created: 12 Nov 2018, 1:55 p.m.

Panel version: 1.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)
OMIM
601313
Clinvar variants
Variants in PKD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2019, Gel status: 4

Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

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

8 Jan 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PKD1.

30 Nov 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Comment when marking as ready:

26 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pkd1 has been classified as Green List (High Evidence).

26 Nov 2018, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PKD1 were set to

12 Nov 2018, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to PKD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

6 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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)