C8A

complement C8 alpha chain
OMIM: 120950, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber C8A in Vasculitis


Level 2: Immunological disorders
Version 0.82

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • C8 deficiency, type I MIM#613790

Amber C8A in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • C8 deficiency, type I MIM#613790

Amber C8A in Complement Deficiencies


Level 2: Immunological disorders
Version 0.73

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • C8 deficiency, type I MIM#613790

    Red C8A in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • C8 deficiency, type I, MIM# 613790