C1S

complement C1s
OMIM: 120580, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green C1S in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.87

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174

Green C1S in Mendeliome


Version 1.2374

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174
  • C1s deficiency MIM#613783

Green C1S in Complement Deficiencies


Level 2: Immunological disorders
Version 0.74

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • C1s deficiency MIM#613783