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| Rare genetic inflammatory skin disorders v1.9 | AIRE |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA;APS1 |
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| Rare genetic inflammatory skin disorders v1.9 | AIRE | Ivone Leong Phenotypes for gene: AIRE were changed from AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | AIRE |
Catherine Snow Source Expert Review Green was added to AIRE. Added phenotypes AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 for gene: AIRE Publications for gene AIRE were changed from to 9921903; 9398839 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rare genetic inflammatory skin disorders v0.21 | AIRE | Tom Cullup reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: ; Publications: 9398839, 9921903; Phenotypes: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, APS1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.14 | AIRE | Catherine Snow reviewed gene: AIRE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.13 | AIRE |
Catherine Snow gene: AIRE was added gene: AIRE was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal |
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