Genomics England

AIRE

autoimmune regulator

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Autoimmune Polyendocrine Syndrome R-numbers: R155 Signed-off version 1.5	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300, autoimmune polyendocrine syndrome type 1, MONDO:0009411
Green in Congenital adrenal hypoplasia R-numbers: R150 Signed-off version 5.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300, autoimmune polyendocrine syndrome type 1, MONDO:0009411
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 240300
Green in Familial hypoparathyroidism R-numbers: R153 Signed-off version 3.6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300, autoimmune polyendocrine syndrome type 1, MONDO:0009411
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 9.91	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300, autoimmune polyendocrine syndrome type 1, MONDO:0009411
Green in Rare genetic inflammatory skin disorders R-numbers: R332 Signed-off version 4.25	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300, autoimmune polyendocrine syndrome type 1, MONDO:0009411
Green in Retinal disorders R-numbers: R32 Signed-off version 9.14	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300, autoimmune polyendocrine syndrome type 1, MONDO:0009411