This Panel is marked as Internal
Renal and urinary tract disorders
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
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- (originally on the Imerslund-Grasbeck syndrome gene panel)
- Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
- OMIM
- 126060
- Clinvar variants
- Variants in DHFR
- Penetrance
- None
- Panels with this gene
-
- Neurotransmitter disorders
- Likely inborn error of metabolism
- Unexplained kidney failure in young people
- Intellectual disability
- Rare anaemia
- Proteinuric renal disease
- Cytopenias and congenital anaemias
- Cerebral folate deficiency
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Louise Daugherty: Gene added from New gene/pheno
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DHFR was added gene: DHFR was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: DHFR was set to Unknown Phenotypes for gene: DHFR were set to (originally on the Imerslund-Grasbeck syndrome gene panel); Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839