DCXR:Ensemblv90

dicarbonyl and L-xylulose reductase
OMIM: 608347, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber DCXR in Mendeliome


Version 1.3802

2 reviews 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 1.59

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Pentosuria MIM#260800
    • Disorders of pentose metabolism

    Amber DCXR in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 2.0

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