This Panel is marked as Internal
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
Gene: PKD2
PKD2 (polycystin 2, transient receptor potential cation channel)
EnsemblGeneIds (GRCh38): ENSG00000118762
EnsemblGeneIds (GRCh37): ENSG00000118762
OMIM: 173910, Gene2Phenotype
PKD2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000118762
EnsemblGeneIds (GRCh37): ENSG00000118762
OMIM: 173910, Gene2Phenotype
PKD2 is in 16 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 1:06 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- ClinGen
- Phenotypes
-
- Familial thoracic aortic aneurysm and aortic dissection
- OMIM
- 173910
- Clinvar variants
- Variants in PKD2
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Thoracic aortic aneurysm or dissection (GMS)
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Cerebral vascular malformations
- Ehlers Danlos syndrome with a likely monogenic cause
- Paediatric or syndromic cardiomyopathy
- Unexplained kidney failure in young people
- Ductal plate malformation
- Thoracic aortic aneurysm or dissection
- Cystic kidney disease
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
History Filter Activity
22 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PKD2 was created by ellenmcdonagh
22 Jun 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PKD2 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Sources: ClinGen,Expert Review Red