PanelApp (stage)
  1. Genes and Genomic Entities
  2. RELA

RELA

RELA proto-oncogene, NF-kB subunit
OMIM: 164014, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green RELA in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.121

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mucocutaneous ulceration, chronic, MIM# 618287
    • Inflammatory bowel disease

    Green RELA in Mendeliome


    Version 1.1891

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mucocutaneous ulceration, chronic, MIM# 618287
    • Impaired NFkB activation
    • reduced production of inflammatory cytokines
    • autoimmune cytopaenias

    Green RELA in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.66

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mucocutaneous ulceration, chronic, MIM# 618287
    • Impaired NFkB activation
    • reduced production of inflammatory cytokines
    • autoimmune cytopaenias

    Green RELA in Systemic Autoinflammatory Disease_Periodic Fever


    Level 2: Immunological disorders
    Version 1.47

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mucocutaneous ulceration, chronic, MIM# 618287
    • periodic fever, inflammatory bowel disease, JIA