Ectodermal dysplasia
Gene: AIRE

AIRE (autoimmune regulator)
EnsemblGeneIds (GRCh38): ENSG00000160224
EnsemblGeneIds (GRCh37): ENSG00000160224
OMIM: 607358, Gene2Phenotype
AIRE is in 14 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.

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

Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300
autoimmune polyendocrine syndrome type 1, MONDO:0009411

OMIM

607358

Clinvar variants

Variants in AIRE

Penetrance

None

Panels with this gene

History Filter Activity

5 Nov 2025, Gel status: 1

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: AIRE were changed from Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300 to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300; autoimmune polyendocrine syndrome type 1, MONDO:0009411

5 Nov 2025, Gel status: 1

Set mode of inheritance

Ida Ertmanska (Genomics England Curator)

Mode of inheritance for gene: AIRE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

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

Ectodermal dysplasia Gene: AIRE