Skeletal ciliopathies

Gene: IFT43

Green List (high evidence)

IFT43 (intraflagellar transport 43)
EnsemblGeneIds (GRCh38): ENSG00000119650
EnsemblGeneIds (GRCh37): ENSG00000119650
OMIM: 614068, Gene2Phenotype
IFT43 is in 16 panels

4 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Amber to Green based on two Green reviews from Penny Clouston and Zornitza Stark. Sufficient cases in the literature to support inclusion on the Ciliopathy panel, including two cases of short-rib thoracic dysplasia with polydactyly from PMID:28400947. Plus confirmed rating in DDG2P for CRANIOECTODERMAL DYSPLASIA TYPE 3; CED3 (also known as Sensenbrenner syndrome) is a rare autosomal recessive heterogeneous ciliopathy. Plus functional role with IFT43 involved in ciliary transport.
Created: 17 Jun 2019, 8:25 a.m. | Last Modified: 20 Jun 2019, 8:21 p.m.
Panel Version: 1.108
Transferring existing information over from Publications field: 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."
PMID:24027799 (GeneReviews).
Created: 17 Jun 2019, 8:22 a.m.

Penny Clouston (Oxford)

Green List (high evidence)

Four unrelated families reported in the literature with SRPS or Sensenbrenner syndrome (3/4 cases affect the initiation codon):
21378380 - 2 siblings
28400947 - 2 families, 3 individuals in total
29896747 - 1 individual
Created: 17 Sep 2018, 1:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

short rib polydactyly; Sensenbrenner syndrome


Zornitza Stark (Australian Genomics)

Green List (high evidence)

3 cases from two additional families reported with SRPS, a ciliopathy.
Created: 4 Aug 2018, 8:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Short-rib polydactyly syndrome


Variants in this GENE are reported as part of current diagnostic practice

Alice Gardham (Genomics England)

Red List (low evidence)

Comment on list classification: Recognised on G2P and offered on GOS panel. IFT43 known to be involved in cilia function. IFT43 patient fibroblasts show shorter cilia similar to IFT122 mutated patients
Created: 19 Jan 2017, 2:50 p.m.
Mutations only identified in one family but offered on GOS ciliopathy panel
Created: 19 Jan 2017, 2:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Cranioectodermal dysplasia 3 614099



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
  • Cranioectodermal dysplasia 3, 614099
  • Sensenbrenner syndrome
  • Short-rib thoracic dysplasia 18 with polydactyly, 617866
Clinvar variants
Variants in IFT43
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: IFT43 was added gene: IFT43 was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT43 were set to 29896747; 28400947; 26892345; 24027799; 21378380; 22791528 Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia 3, 614099; Sensenbrenner syndrome; Short-rib thoracic dysplasia 18 with polydactyly, 617866