Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe Paediatric Disorders

Gene: DCXR

Red List (low evidence)

DCXR (dicarbonyl and L-xylulose reductase)
EnsemblGeneIds (GRCh38): ENSG00000169738
EnsemblGeneIds (GRCh37): ENSG00000169738
OMIM: 608347, Gene2Phenotype
DCXR is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: DCXR; Recommended initial gene rating: Red List (low evidence); Phenotypes: ; Mode of inheritance:
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Red
  • Expert list
OMIM
608347
Clinvar variants
Variants in DCXR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene DCXR were updated from to 30847515

19 Feb 2020, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene DCXR was changed from to BIALLELIC, autosomal or pseudoautosomal

14 Feb 2020, Gel status: 1

Added N