CYBB

cytochrome b-245 beta chain
OMIM: 300481, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red CYBB in Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.3

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
  • Other
Phenotypes
  • Chronic granulomatous disease, X-linked, 306400
  • CGD
  • discoid lupus erythematosus

Green CYBB in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.24

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Chronic granulomatous disease, X-linked 306400
Tags
  • gene-therapy-trial

Green CYBB in Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.7

review Not set
Sources
  • Expert Review Green
  • ClinicalTrials.gov
Phenotypes
  • Granulomatous Disease, Chronic, X-linked

Green CYBB in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.61

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 Green
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Chronic granulomatous disease, X-linked 306400

Green CYBB in COVID-19 research


Level 2: Viral research
Version 1.80

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease, X-linked, 306400
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Congenital defects of phagocyte number or function
  • Immunodeficiency 34, mycobacteriosis, X-linked, 300645
  • Chronic granulomatous disease (CGD)
  • Isolated susceptibility to mycobacteria
  • Infections, autoinflammatory phenotype, IBD, McLeod phenotype in patients with deletions extending into the contiguous Kell locus
  • Defects in Intrinsic and Innate Immunity

Red CYBB in Ectodermal dysplasia


Version 1.26
Latest signed off version: v1.10 (15 Oct 2020)

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
Phenotypes
  • CGD
  • Chronic granulomatous disease, X-linked, 306400
  • discoid lupus erythematosus

Amber CYBB in Rare genetic inflammatory skin disorders


Version 1.40
Latest signed off version: v1.6 (15 Oct 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Chillblain lupus
  • Discoid lupus erythematosus

Green CYBB in Primary immunodeficiency


Version 2.478
Latest signed off version: v2.1 (24 Feb 2020)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 34, mycobacteriosis, X-linked, 300645
  • Chronic granulomatous disease, X-linked, 306400
  • Chronic granulomatous disease (CGD)
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Infections, autoinflammatory phenotype, IBD, McLeod phenotype in patients with deletions extending into the contiguous Kell locus
  • Congenital defects of phagocyte number or function
  • Isolated susceptibility to mycobacteria
  • Defects in Intrinsic and Innate Immunity
Tags
  • gene-therapy-trial

Green CYBB in Severe Paediatric Disorders


Version 1.84

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 34, mycobacteriosis, X-linked, 300645
  • Chronic granulomatous disease, X-linked, 306400