C1S

complement C1s
OMIM: 120580, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green C1S in COVID-19 research


Level 2: Viral research
Version 1.141

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2021
  • 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
  • pyogenic infections
  • Complement component 1 deficiency
  • SLE, infections with encapsulated organisms, Ehlers Danlos phenotype
  • Complement Deficiencies
  • C1s deficiency, 613783
  • C1s deficiency, Lupus
Green C1S 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
  • C1s deficiency, 613783
  • C1s deficiency, Lupus
  • Complement component 1 deficiency
  • SLE
  • pyogenic infections
  • SLE, infections with encapsulated organisms, Ehlers Danlos phenotype
  • Complement Deficiencies
Green C1S in Ehlers Danlos syndrome with a likely monogenic cause

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, periodontal type, 2, OMIM:617174
Green C1S in Severe Paediatric Disorders


Version 1.182

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Ehlers-Danlos syndrome, periodontal type, 2, 617174
  • C1s deficiency, 613783