This Panel is marked as Internal
Dystonia - childhood onset
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
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
- Dihydrofolate reductase deficiency
- Tags
- OMIM
- 126060
- Clinvar variants
- Variants in DHFR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Neurotransmitter disorders
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Rare anaemia
- Proteinuric renal disease
- Cytopenias and congenital anaemias
- Cerebral folate deficiency
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Added Tag
Eleanor Williams (Genomics England Curator)Tag treatable tag was added to gene: DHFR.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: DHFR was added gene: DHFR was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHFR were set to 27604308; 21310277; 21310276; 27830117 Phenotypes for gene: DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; Dihydrofolate reductase deficiency