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
AGXT2	gene	AGXT2	Expert Review Red	Nucleotide metabolism disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Beta-aminoisobutyric acid, urinary excretion of MIM#210100				21572414		False	1	0;0;100	0.8	True		ENSG00000113492	ENSG00000113492	HGNC:14412													
AMPD1	gene	AMPD1	Expert Review Red;Victorian Clinical Genetics Services	Nucleotide metabolism disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	adenosine monophosphate deaminase deficiency MONDO:0013028				27296017;21343608		False	1	0;0;100	0.8	False		ENSG00000116748	ENSG00000116748	HGNC:468													
AMPD3	gene	AMPD3	Expert Review Red;Victorian Clinical Genetics Services	Nucleotide metabolism disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	adenosine monophosphate deaminase deficiency MONDO:0013028				8004104;24940686;11139257		False	1	0;50;50	0.8	False		ENSG00000133805	ENSG00000133805	HGNC:470													
SLC29A1	gene	SLC29A1	Expert Review Red	Nucleotide metabolism disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Disorders of ectonucleotide and nucleic acid metabolism;Equilibrative nucleoside transporter 1 deficiency MONDO:0019052				35955904;25896650		False	1	0;0;100	0.8	True		ENSG00000112759	ENSG00000112759	HGNC:11003													
TPMT	gene	TPMT	Expert Review Red;Victorian Clinical Genetics Services	Nucleotide metabolism disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	{Thiopurines, poor metabolism of, 1} 610460						False	1	0;0;100	0.8	False		ENSG00000137364	ENSG00000137364	HGNC:12014