C8A

complement C8 alpha chain
OMIM: 120950, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green C8A 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
  • Complement component 8 deficiency
  • C8 deficiency, type I, 613790
  • Complement Deficiencies
  • Susceptibility to invasive bacterial infection, especially meningococcal
Green C8A 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
  • C8 deficiency, type I, 613790
  • Complement component 8 deficiency
  • Susceptibility to invasive bacterial infection, especially meningococcal
  • Disseminated neisserial infections
  • Complement Deficiencies
Green C8A in Severe Paediatric Disorders


Version 1.182

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • C8 deficiency, type I, 613790