Cerebral vascular malformations
Gene: PKD1
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
Well established gene-disease association.Created: 25 Apr 2022, 5:50 a.m. | Last Modified: 25 Apr 2022, 5:50 a.m.
Panel Version: 0.13287
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic kidney disease 1, MIM# 173900
Gene: pkd1 has been classified as Green List (High Evidence).
Gene: pkd1 has been classified as Amber List (Moderate Evidence).
Gene: pkd1 has been classified as Green List (High Evidence).
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