IL2RA

interleukin 2 receptor subunit alpha
OMIM: 147730, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green IL2RA in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list Phenotypes Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367
Red IL2RA in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Interleukin-2 receptor, alpha chain, deficiency of, 606367 {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942
Red IL2RA in Familial Meniere Disease Level 3: Other hearing and ear disorders Level 2: Hearing and ear disorders Version 1.3	review	Not set	Sources Literature
Green IL2RA in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.75	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Early Onset Inflammatory Bowel Disease Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367
Green IL2RA in COVID-19 research Level 2: Viral research Version 1.142	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes Combined immunodeficiency Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 Interleukin 2 receptor alpha deficiency (CD25) (IPEX phenotype) Diseases of Immune Dysregulation Interleukin-2 receptor, alpha chain, deficiency of Omenn syndrome Lymphoproliferation, autoimmunity, impaired T cell proliferation
Red IL2RA in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review
Green IL2RA in Neonatal diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes neonatal diabetes mellitus, MONDO:0016391 insulin-dependent diabetes mellitus at 8-weeks IPEX-like syndrome {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, OMIM:601942 neonatal diabetes mellitus with congenital hypothyroidism, MONDO:0012436
Red IL2RA in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review
Green IL2RA in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Interleukin-2 receptor, alpha chain, deficiency of Combined immunodeficiency Omenn syndrome Interleukin 2 receptor alpha deficiency (CD25) (IPEX phenotype) Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 Lymphoproliferation, autoimmunity, impaired T cell proliferation Diseases of Immune Dysregulation
No list IL2RA in Monogenic diabetes Version 2.58 Latest signed off version: v2.2 (25 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Tags curated_removed
Green IL2RA in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367