GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: IFT43

IFT43 (intraflagellar transport 43)
EnsemblGeneIds (GRCh38): ENSG00000119650
EnsemblGeneIds (GRCh37): ENSG00000119650
OMIM: 614068, Gene2Phenotype
IFT43 is in 14 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Cilliopathies with major skeletal involvement gp of SDs. Only one case reported with cranioectodermal dysplasia and two families for short-rib thoracic dysplasia. Variants have also been reported in a few cases with retinal degneration.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
NHS GMS

Phenotypes

Short-rib thoracic dysplasia 18 with polydactyly - 617866
?Cranioectodermal dysplasia 3 - 614099

OMIM

614068

Clinvar variants

Variants in IFT43

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 2

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

Eleanor Williams (Genomics England Curator)

gene: IFT43 was added gene: IFT43 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT43 were set to Short-rib thoracic dysplasia 18 with polydactyly - 617866; ?Cranioectodermal dysplasia 3 - 614099

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: IFT43