Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: AIRE
Hypogonadism is a feature. Multiple families with bi-allelic variants reported.Created: 11 Dec 2020, 9:54 a.m. | Last Modified: 11 Dec 2020, 9:56 a.m.
Panel Version: 0.156
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Publications
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 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Mode of pathogenicity for gene: AIRE was changed from to Other
Mode of inheritance for gene: AIRE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
Mode of inheritance for gene: AIRE was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: AIRE was added gene: AIRE was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: AIRE was set to