This Panel is marked as Internal
Test MOI validation panel - do not edit
Gene: PKD1
PKD1 (polycystin 1, transient receptor potential channel interacting)
EnsemblGeneIds (GRCh38): ENSG00000008710
EnsemblGeneIds (GRCh37): ENSG00000008710
OMIM: 601313, Gene2Phenotype
PKD1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000008710
EnsemblGeneIds (GRCh37): ENSG00000008710
OMIM: 601313, Gene2Phenotype
PKD1 is in 11 panels
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- OMIM test - MOI is Both mono and biallelic and OMIM only AD
- Across panel tests
- OMIM
- 601313
- Clinvar variants
- Variants in PKD1
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Thoracic aortic aneurysm or dissection (GMS)
- Unexplained kidney failure in young people
- Ductal plate malformation
- Thoracic aortic aneurysm or dissection
- Cystic kidney disease
- Fetal anomalies
- Polycystic liver disease
- Cerebral vascular malformations
- Childhood onset dystonia, chorea or related movement disorder
- Rare multisystem ciliopathy disorders
History Filter Activity
20 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: pkd1 has been classified as Green List (High Evidence).
20 Oct 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PKD1 was added gene: PKD1 was added to TEST mode of inheritance validation panel. Sources: Literature Mode of inheritance for gene: PKD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: PKD1 were set to OMIM test - MOI is Both mono and biallelic and OMIM only AD; Across panel tests