1. Genes and Genomic Entities
  2. C1GALT1C1

C1GALT1C1

C1GALT1 specific chaperone 1
OMIM: 300611, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red C1GALT1C1 in Congenital disorders of glycosylation


Level 2: Metabolic
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review Other - please specify in evaluation comments
    Sources
    • Expert Review Red
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Tn polyagglutination syndrome, somatic 300622
    • COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
    Red C1GALT1C1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.642

    		review Other - please specifiy in evaluation comments
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Tn polyagglutination syndrome, somatic 300622
    Red C1GALT1C1 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.91
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Other - please specify in evaluation comments
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
    • Tn polyagglutination syndrome, somatic
    • Tn polyagglutination syndrome, somatic 300622
    Amber C1GALT1C1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, OMIM:301110