C4A

complement C4A (Rodgers blood group)
OMIM: 120810, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green C4A in COVID-19 research


Level 2: Viral research
Version 1.142

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
  • C4a deficiency, 614380
  • Complement Deficiencies
  • SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense
  • Complement component 4 deficiency
  • SLE predisposition
  • Immunodeficiency due to a classical component pathway complement deficiency
  • infections with encapsulated organisms
Green C4A in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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
  • C4a deficiency, 614380
  • Complement component 4 deficiency
  • Immunodeficiency due to a classical component pathway complement deficiency
  • SLE predisposition
  • infections with encapsulated organisms
  • SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense
  • Complement Deficiencies
Green C4A in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • C4a deficiency, 614380