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Ciliary Dyskinesia v1.52 | CFAP221 | Zornitza Stark Phenotypes for gene: CFAP221 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 55, MIM# 279000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ciliary Dyskinesia v1.51 | CFAP221 | Zornitza Stark Publications for gene: CFAP221 were set to PMID: 31636325 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ciliary Dyskinesia v1.50 | CFAP221 | Zornitza Stark Classified gene: CFAP221 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ciliary Dyskinesia v1.50 | CFAP221 | Zornitza Stark Gene: cfap221 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ciliary Dyskinesia v1.49 | CFAP221 | Zornitza Stark reviewed gene: CFAP221: Rating: GREEN; Mode of pathogenicity: None; Publications: 39362668, 40250778, 38960684, 40272718; Phenotypes: Ciliary dyskinesia, primary, 55, MIM# 279000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ciliary Dyskinesia v1.13 | CFAP221 | Zornitza Stark Marked gene: CFAP221 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ciliary Dyskinesia v1.13 | CFAP221 | Zornitza Stark Gene: cfap221 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ciliary Dyskinesia v1.13 | CFAP221 |
Chirag Patel gene: CFAP221 was added gene: CFAP221 was added to Ciliary Dyskinesia. Sources: Literature Mode of inheritance for gene: CFAP221 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP221 were set to PMID: 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 |