Ectodermal dysplasia
Gene: IFT122

IFT122 (intraflagellar transport 122)
EnsemblGeneIds (GRCh38): ENSG00000163913
EnsemblGeneIds (GRCh37): ENSG00000163913
OMIM: 606045, Gene2Phenotype
IFT122 is in 14 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Demoted from amber to red 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.

Created: 22 Jul 2016, 2:25 p.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 0.70

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

Created: 19 Nov 2015, 3:06 p.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

Cranioectodermal dysplasia 1, 218330
Cranioectodermal Dysplasia

OMIM

606045

Clinvar variants

Variants in IFT122

Penetrance

None

Panels with this gene

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: IFT122 was added gene: IFT122 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1, 218330; Cranioectodermal Dysplasia

Ectodermal dysplasia Gene: IFT122