Rare genetic inflammatory skin disorders
Gene: AIREComment on phenotypes: Previous phenotypes:
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA;APS1Created: 24 Mar 2021, 1:47 p.m. | Last Modified: 24 Mar 2021, 1:47 p.m.
Panel Version: 1.9
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:AIRE; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.14
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
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)
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