Cerebral vascular malformations
Gene: PKD1

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - amber in view of vascular malformations seen not aligning with the intended clinical scope of this panel
Created: 29 Nov 2019, 7:05 p.m. | Last Modified: 29 Nov 2019, 7:05 p.m.

Panel Version: 1.67

Comment on mode of inheritance: As a result of updating the mode of inheritance for PKD1 from monoallelic > TO> BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal by PanelApp curation team for renal panels, it was flagged with clinical team about other non-renal panels and it was decided that it also applied to the Cerebral vascular malformation panel
Created: 5 Aug 2019, 8:59 a.m. | Last Modified: 5 Aug 2019, 8:59 a.m.

Panel Version: 1.38

Created: 5 Aug 2019, 8:59 a.m.
Last Modified: 5 Aug 2019, 8:59 a.m.
Panel version: 1.67

Alice Gardham (Genomics England)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic kidney disease, adult type I 173900

Created: 14 Dec 2016, 3:46 p.m.

Panel version: 0.37

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Amber
Yorkshire and North East GLH
NHS GMS
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Polycystic kidney disease, adult type I, OMIM:173900

OMIM

601313

Clinvar variants

Variants in PKD1

Penetrance

Complete

Panels with this gene

History Filter Activity

25 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PKD1 were changed from Polycystic kidney disease, adult type I 173900 to Polycystic kidney disease, adult type I, OMIM:173900

29 Nov 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to PKD1.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PKD1.

5 Aug 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: PKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

19 Dec 2016, Gel status: 4