Multi-organ autoimmune diabetes
Gene: AIRE
AIRE (autoimmune regulator)
EnsemblGeneIds (GRCh38): ENSG00000160224
EnsemblGeneIds (GRCh37): ENSG00000160224
OMIM: 607358, Gene2Phenotype
AIRE is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000160224
EnsemblGeneIds (GRCh37): ENSG00000160224
OMIM: 607358, Gene2Phenotype
AIRE is in 14 panels
2 reviews
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review. It is also a "Both DD and IF gene for AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1.Created: 22 Jul 2016, 3:08 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Addisons disease
- 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
- Intellectual disability
- Ectodermal dysplasia without a known gene mutation
- Autoimmune Polyendocrine Syndrome
- Fetal anomalies
- COVID-19 research
- Familial hypoparathyroidism
- Ectodermal dysplasia
History Filter Activity
25 Jul 2016, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
22 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
22 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
22 Jul 2016, Gel status: 0
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for AIRE was changed to BIALLELIC, autosomal or pseudoautosomal
17 Aug 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)AIRE was added to Multi-organ autoimmune diabetespanel. Sources: Eligibility statement prior genetic testing