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 1.8

review Not set
Sources
  • Emory Genetics Laboratory

Red CD320 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.460

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

Red CD320 in Inborn errors of metabolism


Version 2.141
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Unknown
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Methylmalonic aciduria due to transcobalamin receptor defect