Renal ciliopathies
Gene: IFT43Comment 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.
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 individualCreated: 17 Sep 2018, 1:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
short rib polydactyly; Sensenbrenner syndrome
Publications
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
Phenotypes
Short-rib polydactyly syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
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 patientsCreated: 19 Jan 2017, 2:50 p.m.
Mutations only identified in one family but offered on GOS ciliopathy panelCreated: 19 Jan 2017, 2:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia 3 614099
Publications
gene: IFT43 was added gene: IFT43 was added to Renal 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