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
AASS	gene	AASS	Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperlysinemia, MIM# 238700				23570448		False	2	0;100;0	1.48	True		ENSG00000008311	ENSG00000008311	HGNC:17366													
ACSF3	gene	ACSF3	Expert Review Amber;NHS GMS	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Combined malonic and methylmalonic aciduria MIM#614265				21841779;30740739		False	2	0;100;0	1.48	True		ENSG00000176715	ENSG00000176715	HGNC:27288													
CD320	gene	CD320	Expert Review Amber;Literature	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646;Disorders of cobalamin absorption, transport and metabolism				29663633;27604308;30303736		False	2	100;0;0	1.48	True		ENSG00000167775	ENSG00000167775	HGNC:16692													
CTH	gene	CTH	Expert Review Amber;NHS GMS	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Cystathioninuria MIM#219500				12574942;20584029;24761004;15151507		False	2	100;0;0	1.48	True		ENSG00000116761	ENSG00000116761	HGNC:2501													
DCXR	gene	DCXR	Expert Review Amber;NHS GMS	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Pentosuria MIM#260800;Disorders of pentose metabolism				22042873		False	2	100;0;0	1.48	True		ENSG00000169738	ENSG00000169738	HGNC:18985													
DMGDH	gene	DMGDH	Expert Review Amber;Literature	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Dimethylglycine dehydrogenase deficiency MIM#605850;Disorders and variants of other enzymes that oxidise xenobiotics				11231903;18937046;28881522;27604308		False	2	0;100;0	1.48	True		ENSG00000132837	ENSG00000132837	HGNC:24475													
GGT1	gene	GGT1	Expert Review Amber;Literature	Miscellaneous Metabolic Disorders		Metabolic disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Glutathioninuria MIM#231950;Disorders of the gamma-glutamyl cycle				31520399;27604308;23615310;29483667		False	2	0;100;0	1.48	True		ENSG00000100031	ENSG00000100031	HGNC:4250													
HAL	gene	HAL	Expert Review Amber;Literature	Miscellaneous Metabolic Disorders		Metabolic disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Histidinemia MIM#235800;Disorders of histidine, tryptophan or lysine metabolism				27604308;15806399;20156889		False	2	100;0;0	1.48	True		ENSG00000084110	ENSG00000084110	HGNC:4806													
KHK	gene	KHK	Expert Review Amber;Literature	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Fructosuria MIM#229800;Disorders of fructose metabolism				7833921;27604308;29870677		False	2	0;100;0	1.48	True		ENSG00000138030	ENSG00000138030	HGNC:6315													
OPLAH	gene	OPLAH	Expert Review Amber;NHS GMS	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	5-oxoprolinase deficiency MIM#260005;Disorders of the gamma-glutamyl cycle				27604308;27477828		False	2	100;0;0	1.48	True		ENSG00000178814	ENSG00000178814	HGNC:8149													
SARDH	gene	SARDH	Expert Review Amber;Literature	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Sarcosinemia MIM#268900;Disorders of serine, glycine or glycerate metabolism				22825317;27604308		False	2	100;0;0	1.48	True		ENSG00000123453	ENSG00000123453	HGNC:10536													
SHPK	gene	SHPK	Expert Review Amber;Literature	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Sedoheptulokinase deficiency MIM#617213				25647543;27604308		False	2	0;100;0	1.48	False		ENSG00000197417	ENSG00000197417	HGNC:1492													
SLC1A1	gene	SLC1A1	Expert Review;Expert Review Amber	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Dicarboxylic aminoaciduria, MIM#222730				21123949		False	2	0;100;0	1.48	True		ENSG00000106688	ENSG00000106688	HGNC:10939													
SLC36A2	gene	SLC36A2	Expert Review Amber;Literature	Miscellaneous Metabolic Disorders		Metabolic disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hyperglycinuria MIM#138500;Iminoglycinuria, digenic MIM#242600;Disorders of amino acid transport				19033659;26141664;27604308		False	2	100;0;0	1.48	False		ENSG00000186335	ENSG00000186335	HGNC:18762													
SUGCT	gene	SUGCT	Expert Review Amber;Literature	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Glutaric aciduria III MIM#231690;Organic acidurias				28766179;18926513;33483254;32779420;27604308		False	2	100;0;0	1.48	True		ENSG00000175600	ENSG00000175600	HGNC:16001													
UROC1	gene	UROC1	Expert list;Expert Review Amber	Miscellaneous Metabolic Disorders		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Urocanase deficiency, MIM#276880				19304569;30619714		False	2	0;100;0	1.48	True		ENSG00000159650	ENSG00000159650	HGNC:26444