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
ALDH5A1	gene	ALDH5A1	Expert list;Expert Review Green	Neurotransmitter disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Succinic semialdehyde dehydrogenase deficiency OMIM:271980;succinic semialdehyde dehydrogenase deficiency MONDO:0010083				9683595;14635103;32402538		False	3	100;0;0	1.11	False		ENSG00000112294	ENSG00000112294	HGNC:408													
DBH	gene	DBH	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen	Neurotransmitter disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dopamine beta-hydroxylase deficiency, 223360				27604308;27778639;27830117		False	3	100;0;0	1.11	False		ENSG00000123454	ENSG00000123454	HGNC:2689													
DDC	gene	DDC	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen	Neurotransmitter disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Aromatic L-amino acid decarboxylase deficiency, OMIM:608643;Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084				27604308;24816252;27830117;28100251;30952622		False	3	100;0;0	1.11	False		ENSG00000132437	ENSG00000132437	HGNC:2719													
DHFR	gene	DHFR	Expert Review Green;Literature	Neurotransmitter disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839;Dihydrofolate reductase deficiency				27604308;21310277;21310276;27830117		False	3	100;0;0	1.11	False		ENSG00000228716	ENSG00000228716	HGNC:2861													
DNAJC12	gene	DNAJC12	Expert Review Green;Literature	Neurotransmitter disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperphenylalaninemia, mild, non-BH4-deficient, 617384				28132689		False	3	100;0;0	1.11	False		ENSG00000108176	ENSG00000108176	HGNC:28908													
FOLR1	gene	FOLR1	Expert Review Green;Literature	Neurotransmitter disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration due to cerebral folate transport deficiency, 613068;Folate receptor alpha deficiency				2044715;21937992;19732866;27830117		False	3	100;0;0	1.11	False		ENSG00000110195	ENSG00000110195	HGNC:3791													
GCH1	gene	GCH1	Expert Review Green;Literature	Neurotransmitter disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, (AD/AR),128230;Dopa-responsive dystonia;Hyperphenylalaninemia, BH4-deficient, B, (AR) 233910;GTP-cyclohydrolase deficiency				20301334;10732814;942621;945938;6734669;3762960;3822637;3400489;3041760;2296384;1899474;8163996;7874165;7869202;7730309;9667588;10208576;10987649;11113234;11346370;12084887;12552057;15753436;16908750;17111153;20301681;27830117		False	3	100;0;0	1.11	False		ENSG00000131979	ENSG00000131979	HGNC:4193													
MAOA	gene	MAOA	Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Neurotransmitter disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Brunner syndrome, 300615;Monoamine oxidase A deficiency				24169519;8211186;27830117		False	3	100;0;0	1.11	False		ENSG00000189221	ENSG00000189221	HGNC:6833													
PTS	gene	PTS	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen	Neurotransmitter disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperphenylalaninemia, BH4-deficient, A, 261640;6-Pyruvoyltetrahydropterin Synthase Deficiency;6-Pyruvoyl-tetrahydropterin synthase deficiency				8178819;10220141;9450907;27604308;27830117		False	3	100;0;0	1.11	False		ENSG00000150787	ENSG00000150787	HGNC:9689													
QDPR	gene	QDPR	Expert Review Green;Literature	Neurotransmitter disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperphenylalaninemia, BH4-deficient, C, 261630;Dihydropteridine reductase deficiency				53532;49470;317358;2785251;2116088;7627180;10029353;11153907;11746132;16917893;27604308;27830117		False	3	100;0;0	1.11	False		ENSG00000151552	ENSG00000151552	HGNC:9752													
SLC18A2	gene	SLC18A2	Expert Review Green;Literature	Neurotransmitter disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism);Vesicular monoamine transporter deficiency				27604308;23363473;26497564;28477711;24398404;24018103;27520881;27830117		False	3	100;0;0	1.11	False		ENSG00000165646	ENSG00000165646	HGNC:10935													
SLC6A3	gene	SLC6A3	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Neurotransmitter disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Parkinsonism-dystonia, infantile, 613135;Dopamine transporter deficiency				27830117;21112253		False	3	100;0;0	1.11	False		ENSG00000142319	ENSG00000142319	HGNC:11049													
SPR	gene	SPR	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen	Neurotransmitter disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716;Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties;Sepiapterin reductase deficiency				27830117;11443547;22522443;15241655;18502672;27604308		False	3	100;0;0	1.11	False		ENSG00000116096	ENSG00000116096	HGNC:11257													
TH	gene	TH	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;UKGTN	Neurotransmitter disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Segawa syndrome, recessive, 605407;Tyrosine Hydroxylase Deficiency;DOPA-responsive dystonia				27830117;7814018;9703425;11246459;21937992;7814018;17696123;9732974;8528210;8817341;10585338		False	3	100;0;0	1.11	False		ENSG00000180176	ENSG00000180176	HGNC:11782													
PITX3	gene	PITX3	Emory Genetics Laboratory;Expert Review Red;Literature;Radboud University Medical Center, Nijmegen	Neurotransmitter disorders	Motor Disorders of the CNS	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Disorders of Dopamine Synthesis Regulation				22223473;21368136;26392380;25011953		False	1	0;0;100	1.11	False		ENSG00000107859	ENSG00000107859	HGNC:9006