IRF8

interferon regulatory factor 8
OMIM: 601565, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green IRF8 in COVID-19 research


Level 2: Viral research
Version 1.141

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • Literature
Phenotypes
  • Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990
  • Susceptibility to mycobacteria and multiple other infectious agents
  • Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Susceptibility to mycobacteria
  • familial NK cell deficiency
  • Defects in Intrinsic and Innate Immunity
Green IRF8 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.191
Latest signed off version: v4.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • 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
Phenotypes
  • Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893
  • Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Susceptibility to mycobacteria
  • Defects in Intrinsic and Innate Immunity
  • Susceptibility to mycobacteria and multiple other infectious agents
Green IRF8 in Severe Paediatric Disorders


Version 1.182

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990
  • Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893