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Limb disorders

Gene: IFT43

Amber List (moderate evidence)

IFT43 (intraflagellar transport 43)
EnsemblGeneIds (GRCh38): ENSG00000119650
EnsemblGeneIds (GRCh37): ENSG00000119650
OMIM: 614068, Gene2Phenotype
IFT43 is in 13 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 date
Created: 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
Panels with this gene

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