Cerebral vascular malformations
Gene: PKD1EnsemblGeneIds (GRCh38): ENSG00000008710
EnsemblGeneIds (GRCh37): ENSG00000008710
OMIM: 601313, Gene2Phenotype
PKD1 is in 8 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Intracranial aneurysm is a feature of this condition. Individuals can present with aneurysms prior to developing renal cysts.Created: 19 Nov 2024, 5:42 a.m. | Last Modified: 19 Nov 2024, 5:42 a.m.
Panel Version: 0.39
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
polycystic kidney disease 1 MONDO:0008263
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Polycystic kidney disease, adult type I 173900
- OMIM
- 601313
- Clinvar variants
- Variants in PKD1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pkd1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pkd1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pkd1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PKD1 was added gene: PKD1 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PKD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PKD1 were set to Polycystic kidney disease, adult type I 173900