CYBB

cytochrome b-245 beta chain
OMIM: 300481, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green CYBB in Vasculitis


Level 2: Immunological disorders
Version 0.82

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red CYBB in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease
  • immunodeficiency 34 with mycobacteriosis

Green CYBB in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.121

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green CYBB in Mendeliome


    Version 1.1891

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Chronic granulomatous disease, X-linked, MIM# 306400

    Green CYBB in Mendelian susceptibility to Immune Disorders


    Level 2: Immunological disorders
    Version 0.49

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green CYBB in Defects of innate immunity


    Level 2: Immunological disorders
    Version 0.134

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Chronic granulomatous disease, X-linked, MIM# 306400

    Green CYBB in Phagocyte Defects


    Level 2: Immunological disorders
    Version 1.29

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Chronic granulomatous disease, X-linked, MIM# 306400

    Green CYBB in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Chronic granulomatous disease, X-linked, 306400 (3)

    Green CYBB in Chronic granulomatous disease


    Level 2: Immunological disorders
    Version 1.3

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chronic granulomatous disease, X-linked MIM#306400

    Green CYBB in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Chronic granulomatous disease

    Green CYBB in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Chronic granulomatous disease, X-linked, 306400 (3)

    Green CYBB in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Chronic granulomatous disease, MIM#306400
    Tags
    • treatable
    • immunological

    Green CYBB in Prepair 500+


    Level 2: Screening
    Version 1.1

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Chronic granulomatous disease, X-linked, 306400 (3)