Proteinuric renal disease
Gene: DHFR
DHFR (dihydrofolate reductase)
EnsemblGeneIds (GRCh38): ENSG00000228716
EnsemblGeneIds (GRCh37): ENSG00000228716
OMIM: 126060, Gene2Phenotype
DHFR is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000228716
EnsemblGeneIds (GRCh37): ENSG00000228716
OMIM: 126060, Gene2Phenotype
DHFR is in 12 panels
2 reviews
Eleanor Williams (Genomics England Curator)
After checking with Elizabeth Watson, it was concluded that this gene was rating initially green in error. There is no evidence to support its inclusion on this panel.Created: 26 Mar 2019, 3:25 p.m.
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: DHFR; Suggested initial gene rating: green; Evidence for inclusion: none provided; Other comments: Unaware of phenotype association with this geneCreated: 4 Feb 2019, 10:41 a.m.
Maggie Williams (North Bristol NHS Trust)
phenotype does not fitCreated: 19 Oct 2015, 1:24 p.m.
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
- (originally on the Imerslund-Grasbeck syndrome gene panel)
- OMIM
- 126060
- Clinvar variants
- Variants in DHFR
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Neurotransmitter disorders
- Cytopenias and congenital anaemias
- Unexplained kidney failure in young people
- DDG2P
- Cerebral folate deficiency
- Rare anaemia
History Filter Activity
4 Feb 2019, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to DHFR.
27 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
28 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)DHFR was added to Proteinuric renal diseasepanel. Sources: Radboud University Medical Center, Nijmegen