Rare multisystem ciliopathy disorders
Gene: IFT43EnsemblGeneIds (GRCh38): ENSG00000119650
EnsemblGeneIds (GRCh37): ENSG00000119650
OMIM: 614068, Gene2Phenotype
IFT43 is in 14 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)
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
Zornitza Stark (Australian Genomics)
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
Alice Gardham (Genomics England)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Orphanet
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Short-rib thoracic dysplasia 18 with polydactyly, 617866
- Cranioectodermal dysplasia 3, 614099
- Sensenbrenner syndrome
- OMIM
- 614068
- Clinvar variants
- Variants in IFT43
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal ciliopathies
- Intellectual disability
- Ectodermal dysplasia without a known gene mutation
- Ectodermal dysplasia
- Limb disorders
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Phenotypes
Rebecca Foulger (Genomics England curator)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
Set Phenotypes
Rebecca Foulger (Genomics England curator)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
Set Phenotypes
Rebecca Foulger (Genomics England curator)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
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: ift43 has been classified as Green List (High Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: IFT43 were changed from Cranioectodermal dysplasia 3, 614099 to Cranioectodermal dysplasia 3, 614099; Short-rib polydactyly syndrome; Sensenbrenner syndrome
Set publications
Rebecca Foulger (Genomics England curator)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)
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)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)
Set publications
Ellen McDonagh (Genomics England Curator)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."
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for IFT43 were set to Cranioectodermal dysplasia 3, 614099
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for IFT43 were set to 21378380; 22791528
Set publications
Alice Gardham (Genomics England)Publications for IFT43 were set to 21378380
Upload gene information
Ellen McDonagh (Genomics England Curator)IFT43 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)IFT43 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Upload gene information
Ellen McDonagh (Genomics England Curator)IFT43 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)IFT43 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)IFT43 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene IFT43 were set to Cranioectodermal dysplasia 3, 614099
Added New Source
Ellen McDonagh (Genomics England Curator)IFT43 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)IFT43 was created by ellenmcdonagh