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Undiagnosed metabolic disorders

Gene: DCXR

Green List (high evidence)

DCXR (dicarbonyl and L-xylulose reductase)
EnsemblGeneIds (GRCh38): ENSG00000169738
EnsemblGeneIds (GRCh37): ENSG00000169738
OMIM: 608347, Gene2Phenotype
DCXR is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Essential pentosuria (Disorders of pentose metabolism) is a benign inborn error of metabolism, in which 1 to 4 gm of the pentose L-xylulose is excreted in the urine each day, as a result some patients maybe treated inappropriately for diabetes mellitus with insulin (PMID 22042873).
Created: 19 Sep 2019, 2:53 p.m. | Last Modified: 19 Sep 2019, 2:53 p.m.
Panel Version: 1.291
Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified within Ashkenazi Jewish population, that functional studies have shown to be loss of function variants that result in lack of the normal DCXR protein.
Created: 19 Sep 2019, 2:51 p.m. | Last Modified: 19 Sep 2019, 2:51 p.m.
Panel Version: 1.289

Ellen McDonagh (Genomics England Curator)

gene: DCXR review by Ellen McDonagh

PMID: 22042873 - Pentosuria, which affects almost exclusively individuals of Ashkenazi Jewish ancestry, is characterized by high levels of the pentose sugar L-xylulose in blood and urine and deficiency of the enzyme L-xylulose reductase. The condition is autosomal-recessive and completely clinically benign, but in the early and mid-20th century attracted attention because it was often confused with diabetes mellitus and inappropriately treated with insulin. In this publication, two different variants are reported in this gene from nine unrelated pentosuria patients of Ashkenazi Jewish descent. From the allele frequency of 0.0173 in Ashkenazi Jewish controls, a pentosuria frequency of approximately one in 3,300 in this population was predicted.
Created: 23 Feb 2017, 5:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
[Pentosuria] 260800

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • [Pentosuria] 260800
OMIM
608347
Clinvar variants
Variants in DCXR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Sep 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DCXR were changed from Essential pentosuria (Disorders of pentose metabolism); [Pentosuria] 260800 to [Pentosuria] 260800

19 Sep 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DCXR were set to 27604308

19 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dcxr has been classified as Green List (High Evidence).

19 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dcxr has been classified as Green List (High Evidence).

27 Feb 2017, Gel status: 2

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

DCXR was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene DCXR was set to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DCXR was created by sleigh

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

DCXR was added to Undiagnosed metabolic disorderspanel. Sources: Literature