This Panel is marked as Internal
Non-Fanconi anaemia
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
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
- OMIM
- 126060
- Clinvar variants
- Variants in DHFR
- Penetrance
- Complete
- Panels with this gene
-
- 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
- Intellectual disability
- Fetal anomalies
- Proteinuric renal disease
- Undiagnosed metabolic disorders
History Filter Activity
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)DHFR was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)DHFR was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)DHFR was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen