This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
0 reviews
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Phenotypes
-
- Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
- OMIM
- 607358
- Clinvar variants
- Variants in AIRE
- Penetrance
- None
- Panels with this gene
-
- Familial hypoparathyroidism
- Rare genetic inflammatory skin disorders
- Congenital adrenal hypoplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- Retinal disorders
- Amelogenesis imperfecta
- Multi-organ autoimmune diabetes
- Ectodermal dysplasia without a known gene mutation
- Ectodermal dysplasia
- COVID-19 research
- Autoimmune Polyendocrine Syndrome
- Fetal anomalies
- DDG2P
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: AIRE was added gene: AIRE was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services 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, MIM#240300