Craniosynostosis

Gene: IFT43

Red List (low evidence)

IFT43 (intraflagellar transport 43)
EnsemblGeneIds (GRCh38): ENSG00000119650
EnsemblGeneIds (GRCh37): ENSG00000119650
OMIM: 614068, Gene2Phenotype
IFT43 is in 15 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Cranioectodermal dysplasia type 3 ((Sensenbrenner syndrome) 614099: Characterised by skeletal abnormalities including CSS (OMIM). 2 sibs reported by Arts et al 2011: one with scaphocephaly and sagittal CSS, and one without craniofacial features. Short-rib thoracic dysplasia 18 with polydactyly -617866: Duran et al 2017 report 2 fetuses with short rib polydactyly syndrome: one with dolichocephaly and one with poor mineralization of the cranium. Phenotypic overlap with cranioectodermal dyplasia. Amber? Agree (AW) -CSS clearly documented in 1 of 2 in the Arts report, but not in the Duran cases. I tried to find more cases of IFT43 mutations by looking at citations to the Arts paper, but they seem to be rare. So I think amber more appropriate than green at the moment. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cranioectodermal dysplasia type 3 - 614099; Short-rib thoracic dysplasia 18 with polydactyly -617866

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: IFT43; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Short-rib thoracic dysplasia 18 with polydactyly 617866; Cranioectodermal dysplasia type 3 614099 for gene: IFT43

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: IFT43 was added gene: IFT43 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: IFT43 was set to