Renal Macrocystic Disease

Gene: CFAP47

Amber List (moderate evidence)

CFAP47 (cilia and flagella associated protein 47)
EnsemblGeneIds (GRCh38): ENSG00000165164
EnsemblGeneIds (GRCh37): ENSG00000165164
CFAP47 is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

3 Japanese individuals with bilateral kidney cysts with mild enlargement of kidneys (mean age at Dx ~70yrs). They were all undergoing treatment for hypertension, had mean eGFR of ~31, None of them had any liver cysts, infertility, or any family history of cystic kidney disease.

WGS after negative clinical diagnostic testing, identified 3 missense variants in CFAP47 gene [p.(Arg870Gln), p.(Phe516Cys), and p.(Gly6Asp)]. The variants were rare in gnomAD but had equivocal in silico prediction scores, and would be reported as VUS using ACMG criteria. Segregation was not possible as their mothers were deceased.

CFAP47 encodes cilia and flagella associated protein 47 a protein that plays a role in the formation and function of cilia and flagella. It is is expressed in primary cilia of human kidney tubules. Knockout (KO) mice exhibited larger kidneys with vacuolation of tubular cells and tubular dilation, providing evidence that CFAP47 is a causative gene involved in cyst formation.
Sources: Literature
Created: 5 Mar 2025, 11:44 p.m. | Last Modified: 5 Mar 2025, 11:48 p.m.
Panel Version: 0.79

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Cystic kidney disease MONDO:0002473

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cystic kidney disease MONDO:0002473
Clinvar variants
Variants in CFAP47
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: cfap47 has been classified as Amber List (Moderate Evidence).

5 Mar 2025, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: CFAP47 was added gene: CFAP47 was added to Renal Macrocystic Disease. Sources: Literature Mode of inheritance for gene: CFAP47 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CFAP47 were set to PMID: 39698362 Phenotypes for gene: CFAP47 were set to Cystic kidney disease MONDO:0002473 Review for gene: CFAP47 was set to AMBER