Respiratory ciliopathies including non-CF bronchiectasis
Gene: CFAP57Comment 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: 32764743Created: 2 Dec 2020, 11:33 a.m. | Last Modified: 2 Dec 2020, 11:33 a.m.
Panel Version: 1.22
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: OtherCreated: 25 May 2020, 6:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ciliary dyskinesia
Publications
Gene: cfap57 has been classified as Red List (Low Evidence).
Publications for gene: CFAP57 were set to 32764743
Publications for gene: CFAP57 were set to bioRxiv 773028 doi: https://doi.org/10.1101/773028
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