Congenital adrenal hypoplasia
Gene: AIREEnsemblGeneIds (GRCh38): ENSG00000160224
EnsemblGeneIds (GRCh37): ENSG00000160224
OMIM: 607358, Gene2Phenotype
AIRE is in 14 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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- 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
- Complete
- Panels with this gene
-
- Congenital adrenal hypoplasia
- Retinal disorders
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Amelogenesis imperfecta
- Multi-organ autoimmune diabetes
- Ectodermal dysplasia without a known gene mutation
- Autoimmune Polyendocrine Syndrome
- Intellectual disability
- Fetal anomalies
- COVID-19 research
- Familial hypoparathyroidism
- Ectodermal dysplasia
History Filter Activity
Set Phenotypes
Ida Ertmanska (Genomics England Curator)Phenotypes for gene: AIRE were changed from Ideopathic Primary Adrenal Failure; Congenital Adrenal Hypoplasia to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300; autoimmune polyendocrine syndrome type 1, MONDO:0009411
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.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for AIRE was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)AIRE was added to Congenital adrenal hypoplasiapanel. Sources: Expert list