Cerebral vascular malformations
Gene: PKD1
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 panelCreated: 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 panelCreated: 5 Aug 2019, 8:59 a.m. | Last Modified: 5 Aug 2019, 8:59 a.m.
Panel Version: 1.38
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic kidney disease, adult type I 173900
Phenotypes for gene: PKD1 were changed from Polycystic kidney disease, adult type I 173900 to Polycystic kidney disease, adult type I, OMIM:173900
Source Expert Review Amber was added to PKD1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to PKD1.
Source NHS GMS was added to PKD1.
Mode of inheritance for gene: PKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PKD1 was created by agardham
PKD1 was added to Cerebrovascular disorderspanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen