C1QC

complement C1q C chain
OMIM: 120575, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green C1QC 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
  • SLE, infections with encapsulated organisms
  • Complement component 1 deficiency
  • C1q deficiency, 613652
  • Complement Deficiencies
  • Immunodeficiency due to a classical component pathway complement deficiency
Green C1QC 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
  • C1q deficiency, 613652
  • Complement component 1 deficiency
  • Immunodeficiency due to a classical component pathway complement deficiency
  • SLE, infections with encapsulated organisms
  • Complement Deficiencies
Green C1QC in Severe Paediatric Disorders


Version 1.182

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • C1q deficiency, 613652