DCXR

dicarbonyl and L-xylulose reductase
OMIM: 608347, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber DCXR in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Pentosuria MIM#260800
  • Disorders of pentose metabolism

Amber DCXR 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
    • NHS GMS
    Phenotypes
    • Pentosuria MIM#260800
    • Disorders of pentose metabolism