C1GALT1C1

C1GALT1 specific chaperone 1
OMIM: 300611, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green C1GALT1C1 in Mendeliome


Version 2.0

3 reviews 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

Green C1GALT1C1 in Atypical Haemolytic Uraemic Syndrome_MPGN


Level 2: Renal and urinary tract disorders
Version 1.0

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

Green C1GALT1C1 in Red cell disorders


Level 2: Haematological disorders
Version 2.0

1 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