Genomics England

AIRE

autoimmune regulator

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Autoimmune Polyendocrine Syndrome R-numbers: R155 Signed-off version 1.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes
Green in Congenital adrenal hypoplasia R-numbers: R150 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ideopathic Primary Adrenal Failure, Congenital Adrenal Hypoplasia
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 240300
Green in Familial hypoparathyroidism R-numbers: R153 Signed-off version 2.14	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 6.12	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, 240300, Chronic mucocutaneous candidiasis (CMC), Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), Autoimmune hypoparathyroidism chronic candidiasis Addison disease syndrome, Hypoparathyroidism Addison disease mucocutaneous candidiasis syndrome, Multiple endocrine deficiency Addison disease candidiasis syndrome, Autoimmunity: hypoparathyroidism hypothyroidism, adrenal insufficiency, diabetes, gonadal dysfunction and other endocrine abnormalities, chronic mucocutaneous candidiasis, dental enamel hypoplasia, alopecia areata enteropathy, pernicious anemia, Diseases of Immune Dysregulation
Green in Rare genetic inflammatory skin disorders R-numbers: R332 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300