PanelApp
  1. Genes and Genomic Entities
  2. CTLA4

CTLA4

cytotoxic T-lymphocyte associated protein 4
OMIM: 123890, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CTLA4 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.124

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green CTLA4 in Mendeliome


    Version 1.2374

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Autoimmune lymphoproliferative syndrome, type V (MIM#616100), AD

    Green CTLA4 in Common Variable Immunodeficiency


    Level 2: Immunological disorders
    Version 1.12

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Autoimmune lymphoproliferative syndrome, type V, MIM# 616100

    Green CTLA4 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.10

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Autoimmune lymphoproliferative syndrome, type V, MIM# 616100

    Green CTLA4 in Autoimmune Lymphoproliferative Syndrome


    Level 2: Immunological disorders
    Version 1.0

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100
    • autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493