Ectodermal dysplasia

Gene: IFT43

Red List (low evidence)

IFT43 (intraflagellar transport 43)
EnsemblGeneIds (GRCh38): ENSG00000119650
EnsemblGeneIds (GRCh37): ENSG00000119650
OMIM: 614068, Gene2Phenotype
IFT43 is in 16 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted due to expert review.
Created: 22 Jul 2016, 2:25 p.m.
Please note the suggested mode of inheritance under John McGrath's evaluation was automatically transferred from the original sources and was not provided in his review.
Created: 19 Nov 2015, 3:17 p.m.

John McGrath (King's College London)

Red List (low evidence)

Cranioectdermal dysplasia sounds like an ED but isn't really
Created: 19 Nov 2015, 3:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: IFT43 was added gene: IFT43 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia 3, 614099; Cranioectodermal Dysplasia