Ectodermal dysplasia without a known gene mutationGene: AIRE
The syndrome is not an ED
Created: 19 Nov 2015, 3:06 p.m.
Promoted to version 1 10th August 2016
Mode of inheritance for AIRE was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300
This gene has been classified as Red List (Low Evidence).
AIRE was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: UKGTN