Respiratory ciliopathies including non-CF bronchiectasis
Gene: IFT74EnsemblGeneIds (GRCh38): ENSG00000096872
EnsemblGeneIds (GRCh37): ENSG00000096872
OMIM: 608040, Gene2Phenotype
IFT74 is in 11 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive IFT74 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008711.Created: 14 Jul 2025, 3:06 p.m. | Last Modified: 14 Jul 2025, 3:08 p.m.
Panel Version: 4.29
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
primary ciliary dyskinesia, MONDO:0016575
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- ClinGen
- Phenotypes
-
- primary ciliary dyskinesia, MONDO:0016575
- OMIM
- 608040
- Clinvar variants
- Variants in IFT74
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: IFT74 were changed from ciliary dyskinesia, MONDO:0016575 to primary ciliary dyskinesia, MONDO:0016575
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: IFT74 were changed from ciliary dyskinesia, MONDO:0016575) to ciliary dyskinesia, MONDO:0016575
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: IFT74 was added gene: IFT74 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT74 were set to ciliary dyskinesia, MONDO:0016575)