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| Respiratory ciliopathies including non-CF bronchiectasis v1.47 | CFAP221 | Ivone Leong Phenotypes for gene: CFAP221 were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.46 | CFAP221 | Ivone Leong Classified gene: CFAP221 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.46 | CFAP221 | Ivone Leong Added comment: Comment 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.46 | CFAP221 | Ivone Leong Gene: cfap221 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.45 | CFAP221 |
Zornitza Stark gene: CFAP221 was added gene: CFAP221 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: 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 Review for gene: CFAP221 was set to RED Added comment: 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: Literature |
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