1. Genes and Genomic Entities
  2. TCN1

TCN1

transcobalamin 1
OMIM: 189905, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red TCN1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism)
  • No OMIM number
Red TCN1 in Likely inborn error of metabolism - targeted testing not possible


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

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

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism)
    • No OMIM number