RFXANK

regulatory factor X associated ankyrin containing protein
OMIM: 603200, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green RFXANK in COVID-19 research


Level 2: Viral research
Version 1.80

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Combined B and T cell defect v1.12
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • Combined B and T cell defect v1.12
Phenotypes
  • HLA class II deficiency
  • Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome)
  • MHC class II deficiency, complementation group B
  • Immunodeficiencies affecting cellular and humoral immunity
  • Respiratory and gastrointestinal infections, liver/biliary tract disease

No list RFXANK in Ataxia and cerebellar anomalies - narrow panel


Version 2.241
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Progressive Ataxia and Neurologic Regression
    • MHC class II deficiency, complementation group B MIM#209920

    Green RFXANK in Primary immunodeficiency


    Version 2.478
    Latest signed off version: v2.1 (24 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • NHS GMS
    • North West GLH
    • London North GLH
    • IUIS Classification February 2018
    • Victorian Clinical Genetics Services
    • ESID Registry 20171117
    • GRID V2.0
    • GOSH PID v.8.0
    • Combined B and T cell defect v1.12
    Phenotypes
    • MHC class II deficiency, complementation group B
    • Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome)
    • HLA class II deficiency
    • Respiratory and gastrointestinal infections, liver/biliary tract disease
    • Immunodeficiencies affecting cellular and humoral immunity

    Green RFXANK in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • MHC class II deficiency, complementation group B, 209920