Thoracic dystrophies
Gene: IFT43Comment when marking as ready: Two expert reviews green. Although there is one family reported in the literature, the phenotype includes narrow thorax and therefore relevant to this panel. There is additional evidence of relevance to cilia, small cilia from fibroblast lines with IFT43 mutation and interaction in a pathway with WDR35 (another cranioectodermal dysplasia gene)Created: 30 May 2017, 11:46 a.m.
Comment on publications: PMID: 26892345 - a case report of a girl with mild intellectual disability, skeletal anomalies, congenital heart defect, myopia, and facial dysmorphisms identified a 4q24.2q24.3 microdeletion containing the IFT43 gene could provide some additional evidence: "immunocytochemistry showed increased accumulation of IFT-B proteins at the ciliary tip in patient-derived fibroblasts compared to control cells, demonstrating defective retrograde ciliary transport. This could suggest a ciliary defect in the pathogenesis of this disorder."Created: 26 May 2017, 12:51 p.m.
31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Mode of inheritance for IFT43 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for IFT43 were set to 21378380; 22791528; 26892345; 24027799
Publications for IFT43 were set to 21378380; 22791528; 26892345; 24027799;26792575
Publications for IFT43 were set to 21378380; 22791528; 26892345; 24027799
Publications for IFT43 were set to 21378380;21378380;22791528;26892345;24027799
Publications for IFT43 were set to 21378380
Phenotypes for IFT43 were set to Cranioectodermal dysplasia 3 614099
IFT43 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory