Primary ciliary disorders
Gene: CFAP221Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is currently not associated with a phenotype in OMIM and Gene2Phenotype. There is not enough evidence to support a gene-disease association. This gene has been given a Red rating.Created: 12 Oct 2021, 9:15 a.m. | Last Modified: 12 Oct 2021, 9:15 a.m.
Panel Version: 1.46
WES in 1 family with 3 siblings with clinical symptoms of PCD identified compound heterozygous loss-of-function variants in CFAP221, which segregated with disease. No functional studies. Nasal epithelial cells from 1 of the subjects demonstrated slightly reduced beat frequency, however, waveform analysis revealed that the CFAP221 defective cilia beat in an aberrant circular pattern. A candidate gene in cases where PCD is suspected but cilia structure and beat frequency appear normal.
Sources: LiteratureCreated: 11 Oct 2021, 9:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ciliary dyskinesia
Publications
gene: CFAP221 was added gene: CFAP221 was added to Primary ciliary disorders. Sources: Expert Review Red,Literature Mode of inheritance for gene: CFAP221 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP221 were set to 31636325 Phenotypes for gene: CFAP221 were set to Primary ciliary dyskinesia, MONDO:0016575