Genomics England
GMS Panels
Panels
Genes and Entities
DCXR
dicarbonyl and L-xylulose reductase
OMIM:
608347
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
Green
in
Likely inborn error of metabolism
Component of the following Super Panels:
- Childhood onset leukodystrophy
- Hypotonic infant
- Paediatric disorders
- Unexplained death in infancy and sudden unexplained death in childhood
R-numbers:
R98
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
[Pentosuria] 260800