Respiratory ciliopathies including non-CF bronchiectasis
Gene: CFAP74Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Based on the available evidence there is not enough evidence to support a gene-disease association. This gene has been given an Amber rating.Created: 1 Dec 2020, 4:09 p.m. | Last Modified: 1 Dec 2020, 4:09 p.m.
Panel Version: 1.14
Two unrelated individuals with compound het missense variants reported.
Sources: LiteratureCreated: 6 Jul 2020, 8:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ciliary dyskinesia; infertility
Publications
Tag watchlist tag was added to gene: CFAP74.
Gene: cfap74 has been classified as Amber List (Moderate Evidence).
gene: CFAP74 was added gene: CFAP74 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: CFAP74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP74 were set to 32555313 Phenotypes for gene: CFAP74 were set to Primary ciliary dyskinesia; infertility Review for gene: CFAP74 was set to AMBER