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 1.0

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 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • 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 2.0

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 Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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