Ectodermal dysplasia without a known gene mutation
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
1 review
John McGrath (King's College London)
The syndrome is not an EDCreated: 19 Nov 2015, 3:06 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300
- OMIM
- 607358
- Clinvar variants
- Variants in AIRE
- Penetrance
- Complete
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Congenital adrenal hypoplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Amelogenesis imperfecta
- Multi-organ autoimmune diabetes
- Ectodermal dysplasia without a known gene mutation
- Ectodermal dysplasia
- COVID-19 research
- Autoimmune Polyendocrine Syndrome
- Intellectual disability
- DDG2P
- Retinal disorders
- Fetal anomalies
- Familial hypoparathyroidism
History Filter Activity
10 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 10th August 2016
10 Aug 2016, Gel status: 1
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for AIRE was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
10 Aug 2016, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300
25 Jul 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
8 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)AIRE was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: UKGTN