IRF8

interferon regulatory factor 8
OMIM: 601565, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber IRF8 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990

    Green IRF8 in Mendeliome


    Version 1.3802

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893
    • Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990

    Green IRF8 in Defects of intrinsic and innate immunity


    Level 2: Immunological disorders
    Version 1.24

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893
    • Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990

    Green IRF8 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.147

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990
    Tags
    • treatable
    • immunological