1. Genes and Genomic Entities
  2. RFXANK

RFXANK

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green RFXANK in COVID-19 research


Level 2: Viral research
Version 1.146

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
  • MHC class II deficiency, complementation group B, OMIM:209920
  • HLA class II deficiency
  • Respiratory and gastrointestinal infections, liver/biliary tract disease
  • Immunodeficiencies affecting cellular and humoral immunity
Amber RFXANK in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • MHC class II deficiency, complementation group B, OMIM:209920
    • Progressive Ataxia and Neurologic Regression
    Green RFXANK in Primary immunodeficiency or monogenic inflammatory bowel disease


    Level 2: Immunology
    Version 8.78
    Latest signed off version: v8.0 (30 Apr 2025)

    		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, OMIM:209920
    • HLA class II deficiency
    • Respiratory and gastrointestinal infections, liver/biliary tract disease
    • Immunodeficiencies affecting cellular and humoral immunity