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
A4GALT	gene	A4GALT	Expert Review Red;Victorian Clinical Genetics Services	Aminoacidopathy		Metabolic disorders	Unknown	[Blood group, P1Pk system, p phenotype], MIM# 111400			Abnormality of amino acid metabolism;HP:0004337			False	1	0;0;100	1.134	False		ENSG00000128274	ENSG00000128274	HGNC:18149													
DMGDH	gene	DMGDH	ClinGen;Expert Review Red	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	dimethylglycine dehydrogenase deficiency MONDO:0011610			Abnormality of amino acid metabolism;HP:0004337	11231903		False	1	0;0;100	1.134	True		ENSG00000132837	ENSG00000132837	HGNC:24475													
GNMT	gene	GNMT	ClinGen;Expert Review Red	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	glycine N-methyltransferase deficiency MONDO:0011698			Abnormality of amino acid metabolism;HP:0004337	11810299;14739680		False	1	0;0;100	1.134	True		ENSG00000124713	ENSG00000124713	HGNC:4415													
GSTZ1	gene	GSTZ1	ClinGen;Expert Review Red	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	maleylacetoacetate isomerase deficiency MONDO:0060527			Abnormality of amino acid metabolism;HP:0004337	27876694		False	1	0;0;100	1.134	True		ENSG00000100577	ENSG00000100577	HGNC:4643													
HAL	gene	HAL	ClinGen;Expert Review Red	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	histidinemia MONDO:0009345			Abnormality of amino acid metabolism;HP:0004337	15806399		False	1	0;0;100	1.134	True		ENSG00000084110	ENSG00000084110	HGNC:4806													
HIBADH	gene	HIBADH	ClinGen;Expert Review Red	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	3-hydroxyisobutyric aciduria MONDO:0009371			Abnormality of amino acid metabolism;HP:0004337	34176136;35174513		False	1	0;0;100	1.134	True		ENSG00000106049	ENSG00000106049	HGNC:4907													
HYKK	gene	HYKK	ClinGen;Expert Review Red	Aminoacidopathy		Metabolic disorders	Unknown	inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351			Abnormality of amino acid metabolism;HP:0004337	23242558		False	1	0;0;100	1.134	True		ENSG00000188266	ENSG00000188266	HGNC:34403													
KMO	gene	KMO	ClinGen;Expert Review Red	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	pellagra MONDO:0019975			Abnormality of amino acid metabolism;HP:0004337	28187857, 24189070		False	1	0;0;100	1.134	True		ENSG00000117009	ENSG00000117009	HGNC:6381													
MPST	gene	MPST	ClinGen;Expert Review Red	Aminoacidopathy		Metabolic disorders	Unknown	encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0009585			Abnormality of amino acid metabolism;HP:0004337			False	1	0;0;100	1.134	True		ENSG00000128309	ENSG00000128309	HGNC:7223													
NAT8L	gene	NAT8L	ClinGen;Expert Review Red	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	N-acetylaspartate deficiency MONDO:0013549			Abnormality of amino acid metabolism;HP:0004337	19807691		False	1	0;0;100	1.134	True		ENSG00000185818	ENSG00000185818	HGNC:26742													
OPLAH	gene	OPLAH	Expert Review Red;Other	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	5-oxoprolinase deficiency MONDO:0009825;Disorders of glutathione metabolism			Abnormality of amino acid metabolism;HP:0004337	27477828;27604308		False	1	0;0;100	1.134	True		ENSG00000178814	ENSG00000178814	HGNC:8149													
PHYKPL	gene	PHYKPL	ClinGen;Expert Review Red	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	phosphohydroxylysinuria MONDO:0014008			Abnormality of amino acid metabolism;HP:0004337	23242558		False	1	0;0;100	1.134	True		ENSG00000175309	ENSG00000175309	HGNC:28249													
PRODH2	gene	PRODH2	ClinGen;Expert Review Red	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	hydroxyprolinemia MONDO:0009374			Abnormality of amino acid metabolism;HP:0004337	27139199		False	1	0;0;100	1.134	True		ENSG00000250799	ENSG00000250799	HGNC:17325													
SARDH	gene	SARDH	ClinGen;Expert Review Red	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	sarcosinemia MONDO:0010008			Abnormality of amino acid metabolism;HP:0004337	22825317		False	1	0;0;100	1.134	True		ENSG00000123453	ENSG00000123453	HGNC:10536													
SLC36A2	gene	SLC36A2	ClinGen;Expert Review Red	Aminoacidopathy		Metabolic disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	iminoglycinuria MONDO:0009448			Abnormality of amino acid metabolism;HP:0004337	19033659;26141664		False	1	0;0;100	1.134	True		ENSG00000186335	ENSG00000186335	HGNC:18762													
SLC6A20	gene	SLC6A20	Expert Review Red;Other	Aminoacidopathy		Metabolic disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperglycinuria MONDO:0007677			Abnormality of amino acid metabolism;HP:0004337	36820062;19033659;24816252		False	1	0;0;100	1.134	True		ENSG00000163817	ENSG00000163817	HGNC:30927													
SLC7A5	gene	SLC7A5	Expert Review Red;Other	Aminoacidopathy		Metabolic disorders	Unknown	Large neutral amino acid transporter deficiency (MIM#600182)			Abnormality of amino acid metabolism;HP:0004337	29884839		False	1	0;0;100	1.134	True		ENSG00000103257	ENSG00000103257	HGNC:11063													
TDO2	gene	TDO2	ClinGen;Expert Review Red	Aminoacidopathy		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	familial hypertryptophanemia MONDO:0010907			Abnormality of amino acid metabolism;HP:0004337	28285122		False	1	0;0;100	1.134	True		ENSG00000151790	ENSG00000151790	HGNC:11708