Ciliopathies
Gene: CENPF

CENPF (centromere protein F)
EnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 11 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants reported in >3 families. Functional studies demonstrated the role of CENPF in ciliogenesis and ciliary function.

PMID: 25564561; Waters 2015; 2 families reported. Ciliopathy features such as cerebellar vermis hypoplasia and cleft palate reported in one family. Functional studies performed.
PMID: 28407396; Ozkinay 2017; 1 family reported. Brain MRI showed lissecephaly.
PMID: 26820108; Filges 2016; 2 families reported.
Created: 18 May 2020, 5:48 a.m. | Last Modified: 18 May 2020, 5:48 a.m.

Panel Version: 0.152

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stromme syndrome (MIM#243605)

Publications

Created: 18 May 2020, 5:48 a.m.
Last Modified: 18 May 2020, 5:48 a.m.
Panel version: 0.152

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Stromme syndrome (MIM#243605)

OMIM

600236

Clinvar variants

Variants in CENPF

Penetrance

None

Publications

Panels with this gene