RFX5

regulatory factor X5
OMIM: 601863, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green RFX5 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
  • Bare lymphocyte syndrome (MHC class II deficiency)
  • Bare lymphocyte syndrome, type II, complementation group E
  • Immunodeficiencies affecting cellular and humoral immunity
  • Respiratory and gastrointestinal infections, liver/biliary tract disease
  • Bare lymphocyte syndrome, type II, complementation group C

Green RFX5 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
  • Bare lymphocyte syndrome, type II, complementation group C
  • Bare lymphocyte syndrome, type II, complementation group E
  • HLA class II deficiency
  • Combined immunodeficiency
  • Bare lymphocyte syndrome (MHC class II deficiency)
  • Respiratory and gastrointestinal infections, liver/biliary tract disease
  • Immunodeficiencies affecting cellular and humoral immunity

Green RFX5 in Severe Paediatric Disorders


Version 1.84

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Bare lymphocyte syndrome, type II, complementation group E, 209920
  • Bare lymphocyte syndrome, type II, complementation group C, 209920