Unexplained kidney failure in young people
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
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Details
- Sources
-
- 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
17 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
16 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)DHFR was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen
16 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)DHFR was created by sleigh