Ciliopathies
Gene: IFT43

IFT43 (intraflagellar transport 43)
EnsemblGeneIds (GRCh38): ENSG00000119650
EnsemblGeneIds (GRCh37): ENSG00000119650
OMIM: 614068, Gene2Phenotype
IFT43 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.
Created: 4 Jul 2021, 4:05 a.m. | Last Modified: 4 Jul 2021, 4:09 a.m.

Panel Version: 0.365

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Cranioectodermal dysplasia 3, MIM# 614099; Retinitis pigmentosa 81, MIM# 617871

Publications

Created: 4 Jul 2021, 4:05 a.m.
Last Modified: 4 Jul 2021, 4:09 a.m.
Panel version: 0.365

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866
Retinitis pigmentosa 81 , MIM#617871
Cranioectodermal dysplasia 3, MIM# 614099

OMIM

614068

Clinvar variants

Variants in IFT43

Penetrance

None

Publications

Panels with this gene