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Inborn errors of metabolism

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 list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
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: 12 Aug 2019, 3:23 p.m. | Last Modified: 12 Aug 2019, 3:23 p.m.
Panel Version: 1.104
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: 12 Aug 2019, 3:16 p.m. | Last Modified: 12 Aug 2019, 3:18 p.m.
Panel Version: 1.103

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
  • London North GLH
  • NHS GMS
Phenotypes
  • [Pentosuria] 260800
OMIM
608347
Clinvar variants
Variants in DCXR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Sep 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DCXR were set to 27604308; 22042873; 23988570

12 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DCXR were set to 27604308; 22042873; 23988570

12 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DCXR were set to 27604308; 22042873; 23988570

12 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DCXR were set to 27604308; 22042873

12 Aug 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).

12 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

12 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DCXR were set to 27604308

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to DCXR. Source London North GLH was added to DCXR.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: DCXR was added gene: DCXR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DCXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCXR were set to 27604308 Phenotypes for gene: DCXR were set to [Pentosuria] 260800; Essential pentosuria (Disorders of pentose metabolism)