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 ABAT gene ABAT Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GABA-transaminase deficiency, MIM# 613163 Abnormal CSF metabolite concentration;HP:0025454 28411234;27596361;20052547;10407778;6148708 False 3 100;0;0 1.7 True ENSG00000183044 ENSG00000183044 HGNC:23 ALDH5A1 gene ALDH5A1 Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Abnormal CSF metabolite concentration;HP:0025454 9683595;14635103;32402538 False 3 100;0;0 1.7 True ENSG00000112294 ENSG00000112294 HGNC:408 ALDH7A1 gene ALDH7A1 Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent, MIM# 266100 Abnormal CSF metabolite concentration;HP:0025454 False 3 100;0;0 1.7 True ENSG00000164904 ENSG00000164904 HGNC:877 DBH gene DBH Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dopamine beta-hydroxylase deficiency, MIM#223360 Abnormal CSF metabolite concentration;HP:0025454 11857564 False 3 100;0;0 1.7 True ENSG00000123454 ENSG00000123454 HGNC:2689 DDC gene DDC Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, MIM# 608643 Abnormal CSF metabolite concentration;HP:0025454 20505134 False 3 100;0;0 1.7 True ENSG00000132437 ENSG00000132437 HGNC:2719 DHFR gene DHFR Expert list;Expert Review Green Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839" Abnormal CSF metabolite concentration;HP:0025454 21310276;21310277 False 3 100;0;0 1.7 True ENSG00000228716 ENSG00000228716 HGNC:2861 DNAJC12 gene DNAJC12 Expert list;Expert Review Green Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Hyperphenylalaninemia, mild, non-BH4-deficient, MIM# 617384" Abnormal CSF metabolite concentration;HP:0025454 28132689;30139987;28892570 False 3 100;0;0 1.7 True ENSG00000108176 ENSG00000108176 HGNC:28908 FOLR1 gene FOLR1 Expert list;Expert Review Green Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068" Abnormal CSF metabolite concentration;HP:0025454 19732866;30420205;27743887 False 3 100;0;0 1.7 True ENSG00000110195 ENSG00000110195 HGNC:3791 GABBR2 gene GABBR2 Expert Review Green Neurotransmitter Defects Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy, 59 MONDO:0033368;Gamma-aminobutyric acid neurotransmitter disorders Abnormal CSF metabolite concentration;HP:0025454 35850019 False 3 0;0;0 1.7 False ENSG00000136928 ENSG00000136928 HGNC:4507 GABRA1 gene GABRA1 Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 19, MIM# 615744 Abnormal CSF metabolite concentration;HP:0025454 24623842 False 3 100;0;0 1.7 True ENSG00000022355 ENSG00000022355 HGNC:4075 GABRB1 gene GABRB1 Expert Review Green Neurotransmitter Defects Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy, 45 MONDO:0014942;Gamma-aminobutyric acid neurotransmitter disorders Abnormal CSF metabolite concentration;HP:0025454 23934111;27273810;35850019;31618474 False 3 0;0;0 1.7 False ENSG00000163288 ENSG00000163288 HGNC:4081 GABRB2 gene GABRB2 Expert Review Green Neurotransmitter Defects Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631;Gamma-aminobutyric acid neurotransmitter disorders Abnormal CSF metabolite concentration;HP:0025454 27789573;35850019;29100083 False 3 0;0;0 1.7 False ENSG00000145864 ENSG00000145864 HGNC:4082 GABRB3 gene GABRB3 Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 43, MIM# 617113 Abnormal CSF metabolite concentration;HP:0025454 23934111;27476654 False 3 100;0;0 1.7 True ENSG00000166206 ENSG00000166206 HGNC:4083 GABRD gene GABRD Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Epilepsy;Susceptibility to epilepsy, MIM#613060 Abnormal CSF metabolite concentration;HP:0025454 15115768;34633442 False 3 100;0;0 1.7 True ENSG00000187730 ENSG00000187730 HGNC:4084 GABRG2 gene GABRG2 Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 74 618396;Epilepsy, generalized, with febrile seizures plus, type 3 607681 Abnormal CSF metabolite concentration;HP:0025454 11326274;11326275;27864268 False 3 100;0;0 1.7 True ENSG00000113327 ENSG00000113327 HGNC:4087 GCH1 gene GCH1 Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910;Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Abnormal CSF metabolite concentration;HP:0025454 False 3 100;0;0 1.7 True ENSG00000131979 ENSG00000131979 HGNC:4193 GLRA1 gene GLRA1 Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 1, MIM# 149400 Abnormal CSF metabolite concentration;HP:0025454 8298642;16832093 False 3 100;0;0 1.7 True ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2, MIM# 614619 Abnormal CSF metabolite concentration;HP:0025454 21391991;11929858;27843043 False 3 100;0;0 1.7 True ENSG00000109738 ENSG00000109738 HGNC:4329 GRIA3 gene GRIA3 Expert Review Green Neurotransmitter Defects 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) Glutamate neurotransmitter disorders;X-linked complex neurodevelopmental disorder MONDO:0100148 Abnormal CSF metabolite concentration;HP:0025454 38038360 False 3 0;0;0 1.7 False ENSG00000125675 ENSG00000125675 HGNC:4573 GRIA4 gene GRIA4 Expert Review Green Neurotransmitter Defects Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glutamate neurotransmitter disorders;Neurodevelopmental disorder with or without seizures and gait abnormalities MONDO:0060641 Abnormal CSF metabolite concentration;HP:0025454 35518358;29220673 False 3 0;0;0 1.7 False ENSG00000152578 ENSG00000152578 HGNC:4574 GRIN1 gene GRIN1 Expert Review Green Neurotransmitter Defects Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glutamate neurotransmitter disorders;Complex neurodevelopmental disorder MONDO:0100038 Abnormal CSF metabolite concentration;HP:0025454 29365063;27164704;28051072 False 3 0;0;0 1.7 False ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2A gene GRIN2A Expert Review Green Neurotransmitter Defects Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glutamate neurotransmitter disorders;Complex neurodevelopmental disorder MONDO:0100038 Abnormal CSF metabolite concentration;HP:0025454 30544257 False 3 0;0;0 1.7 False ENSG00000183454 ENSG00000183454 HGNC:4585 GRIN2B gene GRIN2B Expert Review Green Neurotransmitter Defects Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glutamate neurotransmitter disorders;Complex neurodevelopmental disorder MONDO:0100038 Abnormal CSF metabolite concentration;HP:0025454 28377535 False 3 0;0;0 1.7 False ENSG00000273079 ENSG00000273079 HGNC:4586 GRIN2D gene GRIN2D Expert Review Green Neurotransmitter Defects Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glutamate neurotransmitter disorders;Complex neurodevelopmental disorder MONDO:0100038 Abnormal CSF metabolite concentration;HP:0025454 30280376;27616483 False 3 0;0;0 1.7 False ENSG00000105464 ENSG00000105464 HGNC:4588 GRM1 gene GRM1 Expert Review Green Neurotransmitter Defects Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cerebellar ataxia MONDO:0000437;Glutamate neurotransmitter disorders Abnormal CSF metabolite concentration;HP:0025454 26308914;31319223;22901947 False 3 0;0;0 1.7 False ENSG00000152822 ENSG00000152822 HGNC:4593 MAOA gene MAOA Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Brunner syndrome, MIM# 300615 Abnormal CSF metabolite concentration;HP:0025454 25807999;24169519 False 3 100;0;0 1.7 True ENSG00000189221 ENSG00000189221 HGNC:6833 PNPO gene PNPO Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 Abnormal CSF metabolite concentration;HP:0025454 False 3 100;0;0 1.7 True ENSG00000108439 ENSG00000108439 HGNC:30260 PTS gene PTS Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 Abnormal CSF metabolite concentration;HP:0025454 9222755 False 3 100;0;0 1.7 True ENSG00000150787 ENSG00000150787 HGNC:9689 QDPR gene QDPR Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630 Abnormal CSF metabolite concentration;HP:0025454 11153907 False 3 100;0;0 1.7 True ENSG00000151552 ENSG00000151552 HGNC:9752 SLC18A2 gene SLC18A2 Expert Review;Expert Review Green Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Parkinsonism-dystonia, infantile, 2, MIM# 618049" Abnormal CSF metabolite concentration;HP:0025454 23363473;31240161;26497564;9427250;11463816;9427251 False 3 100;0;0 1.7 True ENSG00000165646 ENSG00000165646 HGNC:10935 SLC6A1 gene SLC6A1 Expert Review Green Neurotransmitter Defects Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonic-atonic epilepsy MONDO:0014633 Abnormal CSF metabolite concentration;HP:0025454 34028503 False 3 0;0;0 1.7 False ENSG00000157103 ENSG00000157103 HGNC:11042 SLC6A3 gene SLC6A3 Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinsonism-dystonia, infantile, 1, MIM# 613135 Abnormal CSF metabolite concentration;HP:0025454 21112253 False 3 100;0;0 1.7 True ENSG00000142319 ENSG00000142319 HGNC:11049 SLC6A5 gene SLC6A5 Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, MIM# 614618 Abnormal CSF metabolite concentration;HP:0025454 16751771 False 3 100;0;0 1.7 True ENSG00000165970 ENSG00000165970 HGNC:11051 SLC6A9 gene SLC6A9 Expert Review Green Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Atypical glycine encephalopathy MONDO:0015010;Glycine neurotransmitter disorders Abnormal CSF metabolite concentration;HP:0025454 27481395;27773429;14622582;33269555 False 3 0;0;0 1.7 False ENSG00000196517 ENSG00000196517 HGNC:11056 SPR gene SPR Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 Abnormal CSF metabolite concentration;HP:0025454 22522443 False 3 100;0;0 1.7 True ENSG00000116096 ENSG00000116096 HGNC:11257 TH gene TH Expert Review Green;Victorian Clinical Genetics Services Neurotransmitter Defects Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Segawa syndrome, recessive , MIM#605407 Abnormal CSF metabolite concentration;HP:0025454 17696123;11246459;10585338 False 3 100;0;0 1.7 True ENSG00000180176 ENSG00000180176 HGNC:11782