1. Genes and Genomic Entities
  2. C2

C2

complement C2
OMIM: 613927, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red C2 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
  • discoid (cutaneous) lupus
Green C2 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
  • Inherited complement deficiency v0.11
  • 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
  • Inherited complement deficiency v0.11
Phenotypes
  • Complement Component C2 Deficiency
  • Lupus
  • Complement Deficiencies
  • SLE, infections with encapsulated organisms, atherosclerosis
  • C2 deficiency, 217000
  • Immunodeficiency due to C1, C4, or C2 component complement deficiency
Red C2 in Ectodermal dysplasia


Version 3.29
Latest signed off version: v3.0 (22 Mar 2023)

review Not set
Sources
  • Expert Review Red
Phenotypes
  • discoid (cutaneous) lupus
  • discoid lupus erythematosus
Green C2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.202
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
  • Inherited complement deficiency v0.11
Phenotypes
  • Complement Component C2 Deficiency
  • C2 deficiency, 217000
  • Immunodeficiency due to C1, C4, or C2 component complement deficiency
  • Lupus
  • SLE, infections with encapsulated organisms, atherosclerosis
  • Complement Deficiencies
Red C2 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • {Macular degeneration, age-related, 14, reduced risk of}, OMIM:615489
Green C2 in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • C2 deficiency, 217000