CYBC1

cytochrome b-245 chaperone 1
OMIM: 618334, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber CYBC1 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 1.0

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Chronic granulomatous disease

    Green CYBC1 in Mendeliome


    Version 2.50

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chronic granulomatous disease 5, autosomal recessive, MIM# 618935
    Tags
    • new gene name

    Green CYBC1 in Phagocyte Defects


    Level 2: Immunological disorders
    Version 2.0

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chronic granulomatous disease 5, autosomal recessive, MIM# 618935
    Tags
    • new gene name

    Green CYBC1 in Chronic granulomatous disease


    Level 2: Immunological disorders
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chronic granulomatous disease
    Tags
    • new gene name

    Green CYBC1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Chronic granulomatous disease 5, autosomal recessive, MIM# 618935
    Tags
    • new gene name
    • treatable
    • immunological