CD320

CD320 molecule
OMIM: 606475, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red CD320 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.22

review Not set
Sources
  • Emory Genetics Laboratory
Red CD320 in Undiagnosed metabolic disorders

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

review Unknown
Sources
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Methylmalonic aciduria due to transcobalamin receptor defect 613646
  • Methylmalonic aciduria, transient, due to transcobalamin receptor defect 613646
Tags
  • treatable
Amber CD320 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    Phenotypes
    • Methylmalonic aciduria, transient, due to transcobalamin receptor defect, OMIM:613646
    • methylmalonic acidemia due to transcobalamin receptor defect, MONDO:0013341