CIITA

class II major histocompatibility complex transactivator
OMIM: 600005, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CIITA in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920
  • varied ID
  • bronchiolitis
  • pneumonia
  • severe autoimmune cytopaenia
  • CD4 T-cell lymphopaenia
  • hypogammaglobulinemia
  • absence of antigen-induced immune response
  • chronic diarrhoea
  • recurrent respiratory infections
  • recurrent gastroenteritis
  • failure to thrive
  • liver/biliary tract disease

Green CIITA in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

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
    • Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920
    • varied ID
    • bronchiolitis
    • pneumonia
    • severe autoimmune cytopaenia
    • CD4 T-cell lymphopaenia
    • hypogammaglobulinemia
    • absence of antigen-induced immune response
    • chronic diarrhoea
    • recurrent respiratory infections
    • recurrent gastroenteritis
    • failure to thrive
    • liver/biliary tract disease

    Green CIITA 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
    • Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)

    Green CIITA in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)

    Green CIITA in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920
    Tags
    • treatable
    • immunological

    Green CIITA in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)