C1QA

complement C1q A chain
OMIM: 120550, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green C1QA in COVID-19 research


Level 2: Viral research
Version 1.147

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
  • SLE, infections with encapsulated organisms
  • Complement component 1 deficiency
  • C1q deficiency, 613652
  • Complement Deficiencies
  • Immunodeficiency due to a classical component pathway complement deficiency
Green C1QA in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 9.102
Latest signed off version: v9.91 (12 Aug 2026)

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
  • C1q deficiency, 613652
  • Complement component 1 deficiency
  • Immunodeficiency due to a classical component pathway complement deficiency
  • SLE, infections with encapsulated organisms
  • Complement Deficiencies
Red C1QA in Intellectual disability


Level 2: Developmental disorders
Version 11.17
Latest signed off version: v11.0 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • C1q deficiency 1, OMIM:613652