Ciliary Dyskinesia
Gene: CFAP221
CFAP221 (cilia and flagella associated protein 221)
EnsemblGeneIds (GRCh38): ENSG00000163075
EnsemblGeneIds (GRCh37): ENSG00000163075
CFAP221 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000163075
EnsemblGeneIds (GRCh37): ENSG00000163075
CFAP221 is in 2 panels
1 review
Chirag Patel (Genetic Health Queensland)
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: 4 Oct 2021, 10:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ciliary dyskinesia
Publications
- PMID: 31636325
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Primary ciliary dyskinesia
- Clinvar variants
- Variants in CFAP221
- Penetrance
- None
- Publications
-
- PMID: 31636325
- Panels with this gene
History Filter Activity
4 Oct 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cfap221 has been classified as Red List (Low Evidence).
4 Oct 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)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