Rare multisystem ciliopathy disorders
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
Phenotypes for gene: IFT43 were changed from Short-rib thoracic dysplasia 18 with polydactyly, 617866; Cranioectodermal dysplasia 3, 614099; Sensenbrenner syndrome to Short-rib thoracic dysplasia 18 with polydactyly, 617866; Cranioectodermal dysplasia 3, 614099; Sensenbrenner syndrome
Phenotypes for gene: IFT43 were changed from Short-rib thoracic dysplasia 18 with polydactyly, 617866; Sensenbrenner syndrome to Short-rib thoracic dysplasia 18 with polydactyly, 617866; Cranioectodermal dysplasia 3, 614099; Sensenbrenner syndrome
Phenotypes for gene: IFT43 were changed from Cranioectodermal dysplasia 3, 614099; Short-rib polydactyly syndrome; Sensenbrenner syndrome to Short-rib thoracic dysplasia 18 with polydactyly, 617866; Sensenbrenner syndrome
Gene: ift43 has been classified as Green List (High Evidence).
Phenotypes for gene: IFT43 were changed from Cranioectodermal dysplasia 3, 614099 to Cranioectodermal dysplasia 3, 614099; Short-rib polydactyly syndrome; Sensenbrenner syndrome
Publications for gene: IFT43 were set to 21378380; 22791528; 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."; 24027799 (GeneReviews)
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Amber List (Moderate Evidence).
Publications for IFT43 were set to 21378380; 22791528; 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.";24027799 (GeneReviews)
Publications for IFT43 were set to 21378380; 22791528; 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."
Phenotypes for IFT43 were set to Cranioectodermal dysplasia 3, 614099
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Publications for IFT43 were set to 21378380; 22791528
Publications for IFT43 were set to 21378380
IFT43 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
IFT43 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
IFT43 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
IFT43 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
IFT43 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene IFT43 were set to Cranioectodermal dysplasia 3, 614099
IFT43 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
IFT43 was created by ellenmcdonagh