Disorders of immune dysregulation
Gene: AIRE
Most reported individuals have bi-allelic variants. AD inheritance has been reported in a single family (OMIM) p.G228W has been shown to have a dominant-negative effect by binding to WT AIRE (OMIM)Created: 3 Mar 2020, 9:44 a.m. | Last Modified: 3 Mar 2020, 9:44 a.m.
Panel Version: 0.21
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
AD inheritance has been reported in a single family (OMIM)
p.G228W has been shown to have a dominant-negative effect by binding to WT AIRE (OMIM)Created: 3 Mar 2020, 12:34 a.m. | Last Modified: 3 Mar 2020, 12:34 a.m.
Panel Version: 0.1590
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
Mode of pathogenicity
Other
Gene: aire has been classified as Green List (High Evidence).
Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Mode of inheritance for gene: AIRE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: AIRE was added gene: AIRE was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: AIRE was set to Unknown