C6

complement C6
OMIM: 217050, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green C6 in COVID-19 research


Level 2: Viral research
Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • 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
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Disseminated neisserial infections
  • C6 deficiency, 612446
  • Complement Deficiencies
  • Susceptibility to invasive bacterial infection, especially meningococcal
  • Complement component 6 deficiency
Green C6 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.191
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • C6 deficiency, 612446
  • Complement component 6 deficiency
  • Susceptibility to invasive bacterial infection, especially meningococcal
  • Disseminated neisserial infections
  • Complement Deficiencies
Green C6 in Severe Paediatric Disorders


Version 1.182

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined C6/C7 deficiency
  • C6 deficiency, 612446