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Mendeliome

Gene: CFAP47

Green List (high evidence)

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

3 reviews

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.
Created: 5 Mar 2025, 11:47 p.m. | Last Modified: 5 Mar 2025, 11:48 p.m.
Panel Version: 1.2351

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

Phenotypes
Cystic kidney disease MONDO:0002473

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: 3-4 unrelated individuals and animal model.
Created: 1 Feb 2021, 8:07 a.m. | Last Modified: 1 Feb 2021, 8:07 a.m.
Panel Version: 0.6181

Phenotypes
Spermatogenic failure, X-linked, 3, MIM# 301059

Hazel Phillimore (Victorian Clinical Genetics Services)

I don't know

CFAP47 also known as CXorf22. 3 different missense variants in 3 unrelated Chinese individuals with asthenoteratozoospermia associated with morphological abnormalities of the flagella (MMAF). Immunoblotting and immunofluorescence showed reduced levels of CFAP47 in spermatozoa in all 3 men. A separate asthenoteratozoospermia cohort showed 1 individual with CNV including whole gene deletion of CFAP47.
Mouse model (with frameshift variants generated (via CRISPR-Cas9 technology) were sterile and presented with reduced sperm motility and abnormal flagellar morphology.
Sources: Literature
Created: 1 Feb 2021, 5:18 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF)

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Spermatogenic failure, X-linked, 3, MIM# 301059
  • Cystic kidney disease MONDO:0002473
Clinvar variants
Variants in CFAP47
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Mar 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CFAP47 were changed from Spermatogenic failure, X-linked, 3, MIM# 301059; asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF) to Spermatogenic failure, X-linked, 3, MIM# 301059; Cystic kidney disease MONDO:0002473

6 Mar 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CFAP47 were set to PMID: 33472045

18 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CFAP47 were changed from asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF) to Spermatogenic failure, X-linked, 3, MIM# 301059; asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF)

1 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap47 has been classified as Green List (High Evidence).

1 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap47 has been classified as Green List (High Evidence).

1 Feb 2021, Gel status: 0

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

Hazel Phillimore (Victorian Clinical Genetics Services)

gene: CFAP47 was added gene: CFAP47 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CFAP47 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CFAP47 were set to PMID: 33472045 Phenotypes for gene: CFAP47 were set to asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF) Review for gene: CFAP47 was set to AMBER