C5

complement C5
OMIM: 120900, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red C5 in Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.5

review Not set
Sources
  • Expert Review Red
  • Other
Phenotypes
  • discoid lupus erythematosus

Green C5 in COVID-19 research


Level 2: Viral research
Version 1.130

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


Version 1.41
Latest signed off version: v1.10 (15 Oct 2020)

review Not set
Sources
  • Expert Review Red
Phenotypes
  • discoid lupus erythematosus

Green C5 in Primary immunodeficiency


Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

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

Green C5 in Severe Paediatric Disorders


Version 1.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • C5 deficiency, 609536