Neurotransmitter Defects
Gene: DHFREnsemblGeneIds (GRCh38): ENSG00000228716
EnsemblGeneIds (GRCh37): ENSG00000228716
OMIM: 126060, Gene2Phenotype
DHFR is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the haematologic findings of megaloblastic anaemia and variable neurologic symptoms, ranging from severe developmental delay and generalised seizures in infancy to childhood absence epilepsy with learning difficulties to lack of symptoms. CSF shows markedly decreased 5-methyltetrahydrofolate (5-MTHF) and low tetrahydrobiopterin (BH4), the latter a cofactor required for the synthesis of dopamine and serotonin.
Sources: Expert listCreated: 23 Aug 2020, 6:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839
- OMIM
- 126060
- Clinvar variants
- Variants in DHFR
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dhfr has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dhfr has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DHFR was added gene: DHFR was added to Neurotransmitter Defects. Sources: Expert list Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHFR were set to 21310276; 21310277 Phenotypes for gene: DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839 Review for gene: DHFR was set to GREEN