Neurotransmitter disorders
Gene: DHFREnsemblGeneIds (GRCh38): ENSG00000228716
EnsemblGeneIds (GRCh37): ENSG00000228716
OMIM: 126060, Gene2Phenotype
DHFR is in 12 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on publications: Added publications to support the phenotypeCreated: 25 May 2017, 9:43 a.m.
Comment on list classification: Changed status to Green due to expert review and evidence in the literature to support the phenotypeCreated: 25 May 2017, 9:36 a.m.
added treatable tag. Clinical Genomic Database Comments (NIH/NHGRI): The condition manifests with neurologic sequelae and megaloblastic anemia, and medical management (eg, with folinic acid) may help improve clinical parametersCreated: 25 May 2017, 9:30 a.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
- Complete
- Publications
- 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
panel promoted to version 1
Louise Daugherty (Genomics England Curator)25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; Dihydrofolate reductase deficiency
Set publications
Louise Daugherty (Genomics England Curator)Publications for DHFR were set to 27604308; 21310277; 21310276;27830117
Set publications
Louise Daugherty (Genomics England Curator)Publications for DHFR were set to 27604308; 21310277;21310276
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
Created
Manju Kurian (UCL-Institute of Child Health)DHFR was created by Manju
Added New Source
Manju Kurian (UCL-Institute of Child Health)DHFR was added to Neurotransmitter disorderspanel. Sources: Literature