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  3. IFT43
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Ectodermal Dysplasia

Gene: IFT43

Amber List (moderate evidence)
IFT43 (intraflagellar transport 43)
EnsemblGeneIds (GRCh38): ENSG00000119650
EnsemblGeneIds (GRCh37): ENSG00000119650
OMIM: 614068, Gene2Phenotype
IFT43 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.
Created: 4 Jul 2021, 4:07 a.m. | Last Modified: 4 Jul 2021, 4:10 a.m.
Panel Version: 0.8183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Retinitis pigmentosa 81 , MIM#617871; Cranioectodermal dysplasia 3, MIM# 614099

Publications

Created: 4 Jul 2021, 4:07 a.m.
Last Modified: 4 Jul 2021, 4:10 a.m.
Panel version: Imported from Mendeliome panel version 0.8183

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two unrelated families with cranioectodermal dysplasia and the same variant, p.M1V. The gene is also associated with short-rib thoracic dysplasia, a skeletal ciliopathy.
Sources: Expert list
Created: 10 Mar 2020, 10:56 a.m. | Last Modified: 11 Mar 2020, 8 a.m.
Panel Version: 0.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cranioectodermal dysplasia 3 MIM#614099

Publications

Created: 10 Mar 2020, 10:56 a.m.
Last Modified: 11 Mar 2020, 8 a.m.
Panel version: 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Cranioectodermal dysplasia 3 MIM#614099
OMIM
614068
Clinvar variants
Variants in IFT43
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ift43 has been classified as Amber List (Moderate Evidence).

10 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ift43 has been classified as Amber List (Moderate Evidence).

10 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: IFT43 was added gene: IFT43 was added to Ectodermal Dysplasia_RMH. Sources: Expert list Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT43 were set to 21378380; 29896747 Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia 3 MIM#614099 Review for gene: IFT43 was set to AMBER