Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name DHFR gene DHFR Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Cerebral folate deficiency Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Megaloblastic anemia due to dihydrofolate reductase deficiency 613839" 21310276; 21310277; 27604308 False 3 100;0;0 1.2 False ENSG00000228716 ENSG00000228716 HGNC:2861 FOLR1 gene FOLR1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cerebral folate deficiency Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068 19732866;27604308;27743887;27328863 False 3 100;0;0 1.2 False ENSG00000110195 ENSG00000110195 HGNC:3791 MTHFR gene MTHFR Emory Genetics Laboratory;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cerebral folate deficiency Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Homocystinuria due to MTHFR deficiency 236250" 21555636; 27604308; 27604308 False 3 100;0;0 1.2 False ENSG00000177000 ENSG00000177000 HGNC:7436 SLC46A1 gene SLC46A1 Emory Genetics Laboratory;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cerebral folate deficiency Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Folate malabsorption, hereditary 229050" 21333572; 27604308 False 3 100;0;0 1.2 False ENSG00000076351 ENSG00000076351 HGNC:30521