ITK

IL2 inducible T-cell kinase
OMIM: 186973, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green ITK in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lymphoproliferative syndrome 1 MIM# 613011
  • Lymphadenopathy
  • Recurrent infections
  • Hypogammaglobulinaemia
  • Evidence of EBV infection
  • EBV associated B cell Lymphoproliferation
  • High EBV viral load
  • Normal-low serum Ig
  • Depleted CD4+ T cells
  • Anaemia
  • Thrombocytopaenia
  • Hepatosplenomegaly

Green ITK in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.115

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lymphoproliferative syndrome 1 MIM# 613011
    • Lymphadenopathy
    • Recurrent infections
    • Hypogammaglobulinaemia
    • Evidence of EBV infection
    • EBV associated B cell Lymphoproliferation
    • High EBV viral load
    • Normal-low serum Ig
    • Depleted CD4+ T cells
    • Anaemia
    • Thrombocytopaenia
    • Hepatosplenomegaly

    Green ITK in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.10

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lymphoproliferative syndrome 1, MIM# 613011
    • EBV associated B call lymphoproliferation, lymphoma

    Green ITK in Susceptibility to Viral Infections


    Level 2: Immunological disorders
    Version 0.131

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lymphoproliferative syndrome 1, MIM# 613011
    • EBV- associated B cell lymphoproliferation, lymphoma

    Green ITK in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Lymphoproliferative syndrome 1, 613011 (3)

    Green ITK in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Lymphoproliferative syndrome 1, 613011 (3)

    Green ITK in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lymphoproliferative syndrome 1, MIM# 613011
    Tags
    • treatable
    • immunological

    Green ITK in Autoimmune Lymphoproliferative Syndrome


    Level 2: Immunological disorders
    Version 1.0

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lymphoproliferative syndrome 1 MIM#613011