Congenital adrenal hypoplasia

Gene: AIRE

Green List (high evidence)

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

3 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 5 Feb 2019, 1:47 p.m.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Clear disease association with an overlapping phenotype.
Created: 28 Jun 2016, 1:23 p.m.

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

Typically causes autoimmune adrenal insufficiency with other autoimmune features. However, may be adrenal only form or autoantibodies may not pick it up so needs to be considered in the differential diagnosis of adrenal hypoplasia.
Created: 7 Dec 2015, 1:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

6 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

06/02/2016: Panel revised according to expert review, further curation and discussion with Clinical Geneticists at Genomics England. Ready to promote to version 1.

28 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for AIRE was changed to BIALLELIC, autosomal or pseudoautosomal

28 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Aug 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

AIRE was added to Congenital adrenal hypoplasiapanel. Sources: Expert list