C1GALT1C1

C1GALT1 specific chaperone 1
OMIM: 300611, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green C1GALT1C1 in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tn polyagglutination syndrome, somatic MIM#300622
  • atypical haemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related
Tags
  • somatic

Amber C1GALT1C1 in Atypical Haemolytic Uraemic Syndrome_MPGN


Level 2: Renal and urinary tract disorders
Version 0.53

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Haemolytic uraemic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110

    Green C1GALT1C1 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.24

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Tn polyagglutination syndrome, somatic MIM#300622
    Tags
    • somatic