Renal Macrocystic Disease
Gene: GANABEnsemblGeneIds (GRCh38): ENSG00000089597
EnsemblGeneIds (GRCh37): ENSG00000089597
OMIM: 104160, Gene2Phenotype
GANAB is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
20 individuals from 9 families reported initially. Affected individuals usually present in mid to late adulthood with progressive cysts in the kidney and/or liver. The renal disease is relatively mild, and only some patients develop hypertension; renal insufficiency usually does not occur. The liver disease shows a wide spectrum of severity: some patients have no cysts, whereas others have severe liver involvement.Created: 24 Jun 2020, 9:52 p.m. | Last Modified: 24 Jun 2020, 9:52 p.m.
Panel Version: 0.34
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic kidney disease 3, MIM# 600666
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- KidGen_Cystic v38.1.0
- Phenotypes
-
- Polycystic kidney disease 3, MIM# 600666
- OMIM
- 104160
- Clinvar variants
- Variants in GANAB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ganab has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GANAB were changed from to Polycystic kidney disease 3, MIM# 600666
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GANAB were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GANAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GANAB was added gene: GANAB was added to Renal cystic disease_KidGen. Sources: KidGen_Cystic v38.1.0,Expert Review Green Mode of inheritance for gene: GANAB was set to Unknown