Respiratory ciliopathies including non-CF bronchiectasis
Gene: CFAP43EnsemblGeneIds (GRCh38): ENSG00000197748
EnsemblGeneIds (GRCh37): ENSG00000197748
OMIM: 617558, Gene2Phenotype
CFAP43 is in 3 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive CFAP43 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Disputed'. More information can be found in https://search.clinicalgenome.org/CCID:004425.
Sources: LiteratureCreated: 15 Jul 2025, 5:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spermatogenic failure 19, OMIM:617592; primary ciliary dyskinesia, MONDO:0016575
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- ClinGen
- Phenotypes
-
- Spermatogenic failure 19, OMIM:617592
- primary ciliary dyskinesia, MONDO:0016575
- Tags
- OMIM
- 617558
- Clinvar variants
- Variants in CFAP43
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag disputed tag was added to gene: CFAP43.
Removed Source, Added New Source
Achchuthan Shanmugasundram (Genomics England Curator)Source Literature was removed from CFAP43. Source ClinGen was added to CFAP43.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: CFAP43 was added gene: CFAP43 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: CFAP43 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFAP43 were set to Spermatogenic failure 19, OMIM:617592; primary ciliary dyskinesia, MONDO:0016575 Review for gene: CFAP43 was set to RED