DHFR

dihydrofolate reductase
OMIM: 126060, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green DHFR in Cerebral folate deficiency Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.4	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen UKGTN Expert Review Green Expert Review Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency 613839
Green DHFR in Neurotransmitter disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 Dihydrofolate reductase deficiency Tags treatable
Green DHFR in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.124	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 Tags treatable
Red DHFR in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.125	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (originally on the Imerslund-Grasbeck syndrome gene panel)
Green DHFR in Rare anaemia Level 2: Haematology Version 3.23 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green North West GLH Yorkshire and North East GLH London South GLH NHS GMS Wessex and West Midlands GLH Phenotypes 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
Green DHFR in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport) Megaloblastic anemia due to dihydrofolate reductase deficiency
Green DHFR in Likely inborn error of metabolism Level 2: Metabolic Version 8.107 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport) Megaloblastic anemia due to dihydrofolate reductase deficiency
Green DHFR in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.185 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
Green DHFR in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY 613839
Green DHFR in Intellectual disability Level 2: Developmental disorders Version 9.370 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
Red DHFR in Proteinuric renal disease Level 2: Renal Version 5.10 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	Not set	Sources NHS GMS Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (originally on the Imerslund-Grasbeck syndrome gene panel)
Red DHFR in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.20 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 Dihydrofolate reductase deficiency