Miscellaneous Metabolic Disorders

Gene: DCXR

Amber List (moderate evidence)

DCXR (dicarbonyl and L-xylulose reductase)
EnsemblGeneIds (GRCh38): ENSG00000169738
EnsemblGeneIds (GRCh37): ENSG00000169738
OMIM: 608347, Gene2Phenotype
DCXR is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Clinically benign condition
Created: 3 Feb 2021, 2:31 a.m. | Last Modified: 3 Feb 2021, 2:31 a.m.
Panel Version: 0.122
At least 9 Ashkenazi Jewish probands reported. The condition is clinically benign
Sources: NHS GMS
Created: 3 Feb 2021, 2:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pentosuria MIM#260800; Disorders of pentose metabolism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Pentosuria MIM#260800
  • Disorders of pentose metabolism
OMIM
608347
Clinvar variants
Variants in DCXR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dcxr has been classified as Amber List (Moderate Evidence).

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dcxr has been classified as Amber List (Moderate Evidence).

3 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dcxr has been classified as Red List (Low Evidence).

3 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DCXR was added gene: DCXR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: DCXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCXR were set to 22042873 Phenotypes for gene: DCXR were set to Pentosuria MIM#260800; Disorders of pentose metabolism Review for gene: DCXR was set to GREEN