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  2. Respiratory ciliopathies including non-CF bronchiectasis
  3. CFAP57
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Respiratory ciliopathies including non-CF bronchiectasis

Gene: CFAP57

Red List (low evidence)
CFAP57 (cilia and flagella associated protein 57)
EnsemblGeneIds (GRCh38): ENSG00000243710
EnsemblGeneIds (GRCh37): ENSG00000243710
OMIM: 614259, Gene2Phenotype
CFAP57 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. This gene is not associated with any phenotypes in OMIM or Gene2Phenotype and based on the available evidence this gene has been given a Red rating.
Created: 2 Dec 2020, 11:34 a.m. | Last Modified: 2 Dec 2020, 11:34 a.m.
Panel Version: 1.23
Comment on publications: bioRxiv 773028 doi: https://doi.org/10.1101/773028 has now been published and is PMID: 32764743
Created: 2 Dec 2020, 11:33 a.m. | Last Modified: 2 Dec 2020, 11:33 a.m.
Panel Version: 1.22
Created: 2 Dec 2020, 11:33 a.m.
Last Modified: 2 Dec 2020, 11:33 a.m.
Panel version: 1.22

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Gene not in PubMed but recently published in bioRxiv in single patient with hom nonsense variants and Primary ciliary dyskinesia. Some functional data provided.
Sources: Other
Created: 25 May 2020, 6:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia

Publications

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

Created: 25 May 2020, 6:44 a.m.

Panel version: 1.7

Details

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

History Filter Activity

2 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cfap57 has been classified as Red List (Low Evidence).

2 Dec 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CFAP57 were set to 32764743

2 Dec 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CFAP57 were set to bioRxiv 773028 doi: https://doi.org/10.1101/773028

25 May 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CFAP57 was added gene: CFAP57 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Other Mode of inheritance for gene: CFAP57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP57 were set to bioRxiv 773028 doi: https://doi.org/10.1101/773028 Phenotypes for gene: CFAP57 were set to Primary ciliary dyskinesia Review for gene: CFAP57 was set to RED