Renal Macrocystic Disease
Gene: PKD1
PKD1 (polycystin 1, transient receptor potential channel interacting)
EnsemblGeneIds (GRCh38): ENSG00000008710
EnsemblGeneIds (GRCh37): ENSG00000008710
OMIM: 601313, Gene2Phenotype
PKD1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000008710
EnsemblGeneIds (GRCh37): ENSG00000008710
OMIM: 601313, Gene2Phenotype
PKD1 is in 8 panels
1 review
Chern Lim (Victorian Clinical Genetics Services)
Well-established disease gene for autosomal dominant polycystic kidney disease.
Development of cysts may follow a two-hit hypothesis (germline + somatic), however this is generally only relevant in fetal cases which are often lethal. Disease can be very late onset (OMIM), but is generally considered fully penetrant for renal cystic disease. (Expert opinion (Andrew M, Chirag P, ZS, Amali M) collated by SL)Created: 17 Feb 2020, 6:53 a.m. | Last Modified: 17 Feb 2020, 6:53 a.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polycystic kidney disease 1, MIM# 173900
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- KidGen_Cystic v38.1.0
- Phenotypes
-
- Polycystic kidney disease 1, MIM# 173900
- OMIM
- 601313
- Clinvar variants
- Variants in PKD1
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Feb 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pkd1 has been classified as Green List (High Evidence).
17 Feb 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PKD1 were changed from to Polycystic kidney disease 1, MIM# 173900
17 Feb 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PKD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PKD1 was added gene: PKD1 was added to Renal cystic disease_KidGen. Sources: KidGen_Cystic v38.1.0,Expert Review Green Mode of inheritance for gene: PKD1 was set to Unknown