AIRE

autoimmune regulator
OMIM: 607358, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green AIRE in Congenital Diarrhoea Level 2: Gastroenterological disorders Version 1.13	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Green AIRE in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Green AIRE in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM #240300
Green AIRE in Disorders of immune dysregulation Level 2: Immunological disorders Version 0.186 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Green AIRE in Susceptibility to Fungal Infections Level 2: Immunological disorders Version 1.7 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Green AIRE in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Green AIRE in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.328	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Green AIRE in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
Red AIRE in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Amber AIRE in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia (MIM#240300)
Green AIRE in Familial hypoparathyroidism Level 3: Disorders of calcium homeostasis Level 2: Endocrine disorders Version 1.3	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Autoimmune polyendocrine syndrome type 1 MONDO:0009411
Green AIRE in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 Tags treatable endocrine
Green AIRE in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM #240300