Primary ciliary disorders

Gene: CFAP221

Red List (low evidence)

CFAP221 (cilia and flagella associated protein 221)
EnsemblGeneIds (GRCh38): ENSG00000163075
EnsemblGeneIds (GRCh37): ENSG00000163075
CFAP221 is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

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.
Created: 12 Oct 2021, 9:15 a.m. | Last Modified: 12 Oct 2021, 9:15 a.m.
Panel Version: 1.46

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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
Created: 11 Oct 2021, 9:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Primary ciliary dyskinesia



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Literature
  • Expert Review Red
  • Primary ciliary dyskinesia, MONDO:0016575
Clinvar variants
Variants in CFAP221
Panels with this gene

History Filter Activity

12 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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