PanelApp (staging)
  1. Genes and Genomic Entities
  2. IL2RB

IL2RB

interleukin 2 receptor subunit beta
OMIM: 146710, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green IL2RB in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.122

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495

    Green IL2RB in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495
    • Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections
    Tags
    • treatable

    Green IL2RB in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.5

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495
    • Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections
    Tags
    • treatable

    Green IL2RB in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Immunodeficiency 63 with lymphoproliferation and autoimmunity , MIM#618495
    Tags
    • treatable
    • immunological