Limb disorders
Gene: IFT43
IFT43 (intraflagellar transport 43)
EnsemblGeneIds (GRCh38): ENSG00000119650
EnsemblGeneIds (GRCh37): ENSG00000119650
OMIM: 614068, Gene2Phenotype
IFT43 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000119650
EnsemblGeneIds (GRCh37): ENSG00000119650
OMIM: 614068, Gene2Phenotype
IFT43 is in 14 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Comment when marking as ready: After review of literature, only 2 cases to date have been reported.Created: 18 Oct 2018, 10:27 a.m.
Comment on list classification: Only 2 cases/families to dateCreated: 18 Oct 2018, 10:17 a.m.
Genomics England clinical team notes - Agree with amber rating. Not primarily limb phenotype.Created: 9 Sep 2018, 6:13 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: PMID: 28400947 reported the homozygous variant p.Met1Lys in two siblings, and a homozygous missense variant in a proband of a second family. Parents were heterozygous carriers. All probands had polydactyly.Created: 9 Apr 2018, 10:51 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Other
- Phenotypes
-
- Short-rib thoracic dysplasia 18 with polydactyly 617866
- Polydactyly
- OMIM
- 614068
- Clinvar variants
- Variants in IFT43
- Penetrance
- None
- Publications
-
- 28400947
- 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
11 Dec 2018, Gel status: 2
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on list classification
18 Oct 2018, Gel status: 2
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ift43 has been classified as Amber List (Moderate Evidence).
18 Oct 2018, Gel status: 2
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ift43 has been classified as Amber List (Moderate Evidence).
13 Aug 2018, Gel status: 2
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to IFT43. Panel: Limb disorders Phenotypes for gene IFT43 were set to Short-rib thoracic dysplasia 18 with polydactyly 617866, Polydactyly
9 Apr 2018, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
9 Apr 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)IFT43 was added to Limb disorders panel. Sources: Other
9 Apr 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)IFT43 was created by Ellen McDonagh