C5

complement C5
OMIM: 120900, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red C5 in Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.6

review Not set
Sources
  • Expert Review Red
  • Other
Phenotypes
  • discoid lupus erythematosus
Green C5 in COVID-19 research


Level 2: Viral research
Version 1.146

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
  • C5 deficiency, 609536
  • Disseminated neisserial infections
  • Complement Deficiencies
  • Complement component 5 deficiency
  • Susceptibility to invasive bacterial infection, especially meningococcal
Red C5 in Ectodermal dysplasia


Level 2: Dermatology
Version 4.23
Latest signed off version: v4.0 (30 Apr 2025)

review Not set
Sources
  • Expert Review Red
Phenotypes
  • discoid lupus erythematosus
Green C5 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

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
  • C5 deficiency, 609536
  • Complement component 5 deficiency
  • Susceptibility to invasive bacterial infection, especially meningococcal
  • Disseminated neisserial infections
  • Complement Deficiencies