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  3. CFAP53
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Heterotaxy

Gene: CFAP53

Green List (high evidence)
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)

Green List (high 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. Zebrafish model recapitulates the human phenotype.

Summary: 2 patients described with situs invertus/heterotaxy + animal models
Sources: Literature
Created: 25 May 2020, 1:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy, visceral, 6, autosomal recessive 614779

Publications

Created: 25 May 2020, 1:12 a.m.

Panel version: 0.40

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy, visceral, 6, autosomal recessive 614779
OMIM
614759
Clinvar variants
Variants in CFAP53
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap53 has been classified as Green List (High Evidence).

25 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap53 has been classified as Green List (High Evidence).

25 May 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: CFAP53 was added gene: CFAP53 was added to Heterotaxy. Sources: Literature Mode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP53 were set to PMID:28621423; 22577226; 26531781 Phenotypes for gene: CFAP53 were set to Heterotaxy, visceral, 6, autosomal recessive 614779 Review for gene: CFAP53 was set to GREEN