Ciliopathies
Gene: CFAP53

CFAP53 (cilia and flagella associated protein 53)
EnsemblGeneIds (GRCh38): ENSG00000172361
EnsemblGeneIds (GRCh37): ENSG00000172361
OMIM: 614759, Gene2Phenotype
CFAP53 is in 5 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

aka CCDC11

PMID: 22577226 - 2 siblings with a homozygous splice variant. One sibling had situs invertus syndrome and the other heterotaxy. One sibling far less severely affected. Patients had normal beating cilia, no respiratory issues

PMID: 28621423 - no new patients, performs functional studies on patient cells from ^, and frog animal models. Assays demonstrate mislocalized protein, increased cilia length in patient samples, while animal models showed CFAP53/CCDC11 is important for left-right patterning.

PMID: 26531781 - 1 patient with a homozygous PTC with situs inversus. Respiratory function was described as normal

Summary: 2 patients described with primary cilia dyskinesia - NOT ciliopathy
Created: 6 May 2020, 12:42 a.m. | Last Modified: 6 May 2020, 12:42 a.m.

Panel Version: 0.103

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy, visceral, 6, autosomal recessive 614779

Publications

Created: 6 May 2020, 12:42 a.m.
Last Modified: 6 May 2020, 12:42 a.m.
Panel version: 0.103

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Heterotaxy, visceral, 6, autosomal recessive 614779

OMIM

614759

Clinvar variants

Variants in CFAP53

Penetrance

None

Publications

Panels with this gene