Thoracic dystrophies
Gene: IFT43EnsemblGeneIds (GRCh38): ENSG00000119650
EnsemblGeneIds (GRCh37): ENSG00000119650
OMIM: 614068, Gene2Phenotype
IFT43 is in 14 panels
4 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Two expert reviews green. Although there is one family reported in the literature, the phenotype includes narrow thorax and therefore relevant to this panel. There is additional evidence of relevance to cilia, small cilia from fibroblast lines with IFT43 mutation and interaction in a pathway with WDR35 (another cranioectodermal dysplasia gene)Created: 30 May 2017, 11:46 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on publications: 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."Created: 26 May 2017, 12:51 p.m.
Melita Irving (Guy's and St Thomas' NHS Trust)
Hannah Mitchison (UCL and GOSH)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Cranioectodermal dysplasia 3 614099
- OMIM
- 614068
- Clinvar variants
- Variants in IFT43
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Skeletal ciliopathies
- DDG2P
- Ectodermal dysplasia without a known gene mutation
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary ciliary disorders
- Ectodermal dysplasia
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for IFT43 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)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; 24027799
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IFT43 were set to 21378380; 22791528; 26892345; 24027799;26792575
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IFT43 were set to 21378380; 22791528; 26892345; 24027799
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IFT43 were set to 21378380;21378380;22791528;26892345;24027799
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IFT43 were set to 21378380
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for IFT43 were set to Cranioectodermal dysplasia 3 614099
Added New Source
Eik Haraldsdottir (Genomics England)IFT43 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory