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  3. CFAP57
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Ciliary Dyskinesia

Gene: CFAP57

Amber List (moderate evidence)
CFAP57 (cilia and flagella associated protein 57)
EnsemblGeneIds (GRCh38): ENSG00000243710
EnsemblGeneIds (GRCh37): ENSG00000243710
OMIM: 614259, Gene2Phenotype
CFAP57 is in 3 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

I don't know

Gene not in PubMed but recently published in bioRxiv in single patient with hom nonsense variants and Primary ciliary dyskinesia. Some functional data provided.

PMID: 21574244 - patient with a heterozygous missense and Van der Woude Syndrome. Classed in OMIM as a VUS.

PMID: 32764743 - one homozygous patient p.(Arg588*) w/ PCD - variant results in the skipping of exon 11 (58 amino acids), which may be due to disruption of an exonic splicing enhancer. Functional studies on Chlamydomonas animal model is defective. Potentially the same patient as bioRxiv
Created: 7 Sep 2020, 5:33 a.m. | Last Modified: 7 Sep 2020, 5:33 a.m.
Panel Version: 0.123
Gene not in PubMed but recently published in bioRxiv in single patient with hom nonsense variants and Primary ciliary dyskinesia. Some functional data provided.

PMID: 21574244 - patient with a heterozygous missense and Van der Woude Syndrome. Classed in OMIM as a VUS.

No other reports.
Created: 25 May 2020, 1:46 a.m. | Last Modified: 25 May 2020, 1:46 a.m.
Panel Version: 0.76

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Van der Woude Syndrome; Primary ciliary dyskinesia

Publications

Created: 25 May 2020, 1:46 a.m.
Last Modified: 25 May 2020, 1:46 a.m.
Panel version: 0.123

Sebastian Lunke (Victorian Clinical Genetics Services)

I don't know

Gene not in PubMed but recently published in bioRxiv in single patient with hom nonsense variants and Primary ciliary dyskinesia. Some functional data provided.
Created: 1 Dec 2019, 11:53 p.m. | Last Modified: 1 Dec 2019, 11:53 p.m.
Panel Version: 0.1
Sources: Literature
Created: 1 Dec 2019, 11:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • bioRxiv 773028 doi: https://doi.org/10.1101/773028

Created: 1 Dec 2019, 11:50 p.m.

Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Van der Woude Syndrome
  • Primary ciliary dyskinesia
OMIM
614259
Clinvar variants
Variants in CFAP57
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CFAP57 were changed from to Van der Woude Syndrome; Primary ciliary dyskinesia

7 Sep 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CFAP57 were set to

1 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Sebastian Lunke (Victorian Clinical Genetics Services)

Gene: cfap57 has been classified as Amber List (Moderate Evidence).

1 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Sebastian Lunke (Victorian Clinical Genetics Services)

Gene: cfap57 has been classified as Amber List (Moderate Evidence).

1 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sebastian Lunke (Victorian Clinical Genetics Services)

gene: CFAP57 was added gene: CFAP57 was added to Ciliary dyskinesia_VCGS. Sources: Literature Mode of inheritance for gene: CFAP57 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: CFAP57 was set to AMBER