Ectodermal dysplasia

Gene: AIRE

Red List (low evidence)

AIRE (autoimmune regulator)
EnsemblGeneIds (GRCh38): ENSG00000160224
EnsemblGeneIds (GRCh37): ENSG00000160224
OMIM: 607358, Gene2Phenotype
AIRE is in 13 panels

1 review

John McGrath (King's College London)

Red List (low evidence)

The syndrome is not an ED
Created: 19 Nov 2015, 3:06 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300
OMIM
607358
Clinvar variants
Variants in AIRE
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: AIRE was added gene: AIRE was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300