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	1.4	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	1.4	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	1.4	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, OMIM:229050				21333572; 27604308		False	3	100;0;0	1.4	False		ENSG00000076351	ENSG00000076351	HGNC:30521