Miscellaneous Metabolic Disorders
Gene: DCXREnsemblGeneIds (GRCh38): ENSG00000169738
EnsemblGeneIds (GRCh37): ENSG00000169738
OMIM: 608347, Gene2Phenotype
DCXR is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Clinically benign conditionCreated: 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 GMSCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dcxr has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dcxr has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dcxr has been classified as Red List (Low Evidence).
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