Cerebral vascular malformations
Gene: PKD2EnsemblGeneIds (GRCh38): ENSG00000118762
EnsemblGeneIds (GRCh37): ENSG00000118762
OMIM: 173910, Gene2Phenotype
PKD2 is in 16 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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, 7:06 p.m. | Last Modified: 29 Nov 2019, 7:06 p.m.
Panel Version: 1.67
Alice Gardham (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic kidney disease 2 613095
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Yorkshire and North East GLH
- NHS GMS
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Polycystic kidney disease 2, OMIM:613095
- OMIM
- 173910
- Clinvar variants
- Variants in PKD2
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Thoracic aortic aneurysm or dissection (GMS)
- Unexplained kidney failure in young people
- Cerebral vascular malformations
- Ductal plate malformation
- Cystic kidney disease
- Thoracic aortic aneurysm or dissection
- Paediatric or syndromic cardiomyopathy
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PKD2 were changed from Polycystic kidney disease 2 613095 to Polycystic kidney disease 2, OMIM:613095
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to PKD2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to PKD2.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PKD2.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)PKD2 was added to Cerebrovascular disorderspanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Created
Alice Gardham (Genomics England)PKD2 was created by agardham