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 1.9 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 1.9 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 1.9 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 1.9 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 1.9 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 1.9 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 1.9 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 1.9 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 1.9 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 1.9 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 1.9 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 1.9 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, 612716;Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties;Dopa-Responsive Dystonia;Sepiapterin reductase deficiency 27830117;11443547;22522443;15241655;18502672;27604308 False 3 100;0;0 1.9 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 1.9 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 1.9 False ENSG00000107859 ENSG00000107859 HGNC:9006