Respiratory ciliopathies including non-CF bronchiectasis
Gene: IFT140

IFT140 (intraflagellar transport 140)
EnsemblGeneIds (GRCh38): ENSG00000187535
EnsemblGeneIds (GRCh37): ENSG00000187535
OMIM: 614620, Gene2Phenotype
IFT140 is in 17 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Two rare missense IFT140 variants (p.Leu693Phe & p.Lys390Arg) reported in a case of primary ciliary dyskinesia, both variats predicted to be benign by Polyphen & SIFT (PMID 34556108).
Sources: Literature
Created: 18 Oct 2021, 4:39 p.m. | Last Modified: 18 Oct 2021, 4:43 p.m.

Panel Version: 1.50

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 9 with or without polydactyly OMIM:266920

Publications

34556108

Created: 18 Oct 2021, 4:39 p.m.
Last Modified: 18 Oct 2021, 4:43 p.m.
Panel version: 1.50

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

Phenotypes

Short-rib thoracic dysplasia 9 with or without polydactyly OMIM:266920

OMIM

614620

Clinvar variants

Variants in IFT140

Penetrance

None

Publications

34556108

Panels with this gene

History Filter Activity

18 Oct 2021, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: IFT140 was added gene: IFT140 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT140 were set to 34556108 Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly OMIM:266920 Review for gene: IFT140 was set to RED

Respiratory ciliopathies including non-CF bronchiectasis Gene: IFT140