Neurotransmitter disorders
Gene: DHFRComment 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; Dihydrofolate reductase deficiency
Publications for DHFR were set to 27604308; 21310277; 21310276;27830117
Publications for DHFR were set to 27604308; 21310277;21310276
This gene has been classified as Green List (High Evidence).
Phenotypes for DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
DHFR was created by Manju
DHFR was added to Neurotransmitter disorderspanel. Sources: Literature