PanelApp (stage)
  1. Genes and Genomic Entities
  2. CD320

CD320

CD320 molecule
OMIM: 606475, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CD320 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646
  • Disorders of cobalamin absorption, transport and metabolism

Amber CD320 in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.46

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646
    • Disorders of cobalamin absorption, transport and metabolism

    Amber CD320 in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.6

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Methylmalonic acidemia due to transcobalamin receptor defect MONDO:0013341