CYBB

cytochrome b-245 beta chain
OMIM: 300481, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red CYBB in Cataract Level 2: Ophthalmological disorders Version 1.0	1 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 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CYBB in Mendeliome Version 2.0	1 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 Defects of intrinsic and innate immunity Level 2: Immunological disorders Version 2.0	2 reviews	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 2.0	1 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 1.0	0 reviews	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 2.0	1 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 1.0	0 reviews	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 3.0	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)
Green CYBB in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 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 3.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Chronic granulomatous disease, X-linked, MIM#306400