CYBB

cytochrome b-245 beta chain
OMIM: 300481, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red CYBB in Familial cicatricial alopecia Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.5	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 1.43	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 0.9	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 1.75	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 1.142	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 3.29 Latest signed off version: v3.0 (22 Mar 2023)	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 3.19 Latest signed off version: v3.0 (22 Mar 2023)	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 or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	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 1.184	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