Cystic kidney disease
Gene: CDC73

CDC73 (cell division cycle 73)
EnsemblGeneIds (GRCh38): ENSG00000134371
EnsemblGeneIds (GRCh37): ENSG00000134371
OMIM: 607393, Gene2Phenotype
CDC73 is in 10 panels

1 review

Aakash Joshi (St George's Hospital)

Green List (high evidence)

Monoallelic CDC73 variants can be associated with variable presentation of renal cysts with 15-25% of affected individuals having renal cysts as per GeneReviews. PMCID 11748460 illustrates a case where an individual presented due to renal cysts (however was being concurrently having treatment for a jaw tumour).
Sources: Literature
Created: 29 Sep 2026, 12:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
multiple renal cysts

Publications

PMCID 11748460

Created: 29 Sep 2026, 12:16 p.m.

Panel version: 9.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Phenotypes

multiple renal cysts

OMIM

607393

Clinvar variants

Variants in CDC73

Penetrance

Incomplete

Publications

PMCID 11748460

Panels with this gene

History Filter Activity

29 Sep 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Aakash Joshi (St George's Hospital)

gene: CDC73 was added gene: CDC73 was added to Cystic kidney disease. Sources: Literature Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDC73 were set to PMCID 11748460 Phenotypes for gene: CDC73 were set to multiple renal cysts Penetrance for gene: CDC73 were set to Incomplete Review for gene: CDC73 was set to GREEN

Cystic kidney disease Gene: CDC73