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 ADAR gene ADAR Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010 23001123 False 3 100;0;0 1.40 False ENSG00000160710 ENSG00000160710 HGNC:225 AP1S2 gene AP1S2 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Structural basal ganglia 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) Pettigrew syndrome, OMIM:304340 10398241;17186471;17617514;22210230;23756445;30383884;30714330 False 3 100;0;0 1.40 False ENSG00000182287 ENSG00000182287 HGNC:560 ATP13A2 gene ATP13A2 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Kufor-Rakeb syndrome 606693" 21060012 False 3 100;0;0 1.40 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP7B gene ATP7B Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Wilson disease 277900" False 3 100;0;0 1.40 False ENSG00000123191 ENSG00000123191 HGNC:870 BCS1L gene BCS1L Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 1.40 False ENSG00000074582 ENSG00000074582 HGNC:1020 C19orf12 gene C19orf12 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 43, autosomal recessive, OMIM:615043;Neurodegeneration with brain iron accumulation 4, OMIM: 614298 23269600;21981780;29295770;31087512 False 3 100;0;0 1.40 False ENSG00000131943 ENSG00000131943 HGNC:25443 COASY gene COASY Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6, OMIM:615643;neurodegeneration with brain iron accumulation 6, MONDO:0014290 11980892;25778941;24360804;27021474;28489334;30089828;36495139 False 3 100;0;0 1.40 False ENSG00000068120 ENSG00000068120 HGNC:29932 COX10 gene COX10 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 10767350 False 3 67;0;33 1.40 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 False 3 100;0;0 1.40 False ENSG00000014919 ENSG00000014919 HGNC:2263 CP gene CP Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Cerebellar ataxia 604290;Hemosiderosis, systemic, due to aceruloplasminemia 604290;[Hypoceruloplasminemia, hereditary] 604290" False 3 100;0;0 1.40 False ENSG00000047457 ENSG00000047457 HGNC:2295 DLAT gene DLAT Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Pyruvate dehydrogenase E2 deficiency 245348" 19891062;16049940 False 3 100;0;0 1.40 False ENSG00000150768 ENSG00000150768 HGNC:2896 ETHE1 gene ETHE1 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Ethylmalonic encephalopathy 602473" False 3 100;0;0 1.40 False ENSG00000105755 ENSG00000105755 HGNC:23287 FA2H gene FA2H Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 35, autosomal recessive 612319" 19068277 False 3 100;0;0 1.40 False ENSG00000103089 ENSG00000103089 HGNC:21197 FOXP2 gene FOXP2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Speech-language disorder-1 602081 22434823;15877281;11586359 False 3 100;0;0 1.40 False ENSG00000128573 ENSG00000128573 HGNC:13875 FTL gene FTL Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration with brain iron accumulation 3 606159 False 3 100;0;0 1.40 False ENSG00000087086 ENSG00000087086 HGNC:3999 GCDH gene GCDH Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 8900228;10699052;8900227;11174631;7795610 False 3 100;0;0 1.40 False ENSG00000105607 ENSG00000105607 HGNC:4189 HIBCH gene HIBCH Expert Review Green;Other;Radboud University Medical Center, Nijmegen Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency 250620 False 3 100;0;0 1.40 False ENSG00000198130 ENSG00000198130 HGNC:4908 IFIH1 gene IFIH1 Expert Review Green;UKGTN Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aicardi-Goutieres syndrome 7, OMIM:615846 False 3 100;0;0 1.40 False ENSG00000115267 ENSG00000115267 HGNC:18873 ISG15 gene ISG15 Expert Review Green;Other Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 38 616126 25307056;22859821 False 3 0;0;100 1.40 False ENSG00000187608 ENSG00000187608 HGNC:4053 IVD gene IVD Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Isovaleric acidemia 243500" False 3 100;0;0 1.40 False ENSG00000128928 ENSG00000128928 HGNC:6186 KIAA1161 gene KIAA1161 Expert Review;Expert Review Green Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal Recessive Primary Familial Brain Calcification;Basal ganglia calcification, idiopathic, 7, autosomal recessive;Calcifications in the basal ganglia 29910000;30589467;30656188;30649222;31009047 False 3 100;0;0 1.40 False ENSG00000164976 ENSG00000164976 HGNC:19918 KMT2B gene KMT2B Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 28, childhood-onset, OMIM:617284;early-onset dystonia 27992417 False 3 100;0;0 1.40 False ENSG00000272333 ENSG00000272333 HGNC:15840 MECR gene MECR Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282" 27817865 False 3 100;0;0 1.40 False ENSG00000116353 ENSG00000116353 HGNC:19691 MT-ATP6 gene MT-ATP6 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MITOCHONDRIAL 1550128;11916326 False 3 67;0;33 1.40 False ENSG00000198899 ENSG00000198899 HGNC:7414 MT-ND1 gene MT-ND1 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MITOCHONDRIAL False 3 100;0;0 1.40 False ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND6 gene MT-ND6 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MITOCHONDRIAL False 3 100;0;0 1.40 False ENSG00000198695 ENSG00000198695 HGNC:7462 MUT gene MUT Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Methylmalonic aciduria, mut(0) type 251000" False 3 100;0;0 1.40 False ENSG00000146085 ENSG00000146085 HGNC:7526 NDUFA1 gene NDUFA1 Expert Review Green;Literature Structural basal ganglia 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) "Mitochondrial complex I deficiency 252010" 17262856;28247337 False 3 50;0;50 1.40 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leigh syndrome 256000" 26741492;21150889;28247337 False 3 100;0;0 1.40 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFAF2 gene NDUFAF2 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 20818383;16200211;20571988 False 3 50;0;50 1.40 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF6 gene NDUFAF6 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leigh syndrome due to mitochondrial complex I deficiency 256000" 18614015;27623250;26741492 False 3 100;0;0 1.40 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFS4 gene NDUFS4 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leigh syndrome 256000;Mitochondrial complex I deficiency 252010" 24020637 False 3 100;0;0 1.40 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS7 gene NDUFS7 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal False 3 50;0;50 1.40 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 1.40 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 26345448;10080174 False 3 50;0;50 1.40 False ENSG00000167792 ENSG00000167792 HGNC:7716 OCLN gene OCLN Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Band-like calcification with simplified gyration and polymicrogyria 251290 20727516 False 3 100;0;0 1.40 False ENSG00000197822 ENSG00000197822 HGNC:8104 PANK2 gene PANK2 Expert Review;Expert Review Green Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 1.40 False ENSG00000125779 ENSG00000125779 HGNC:15894 PCCA gene PCCA Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Propionicacidemia 606054" 6790853;15235904 False 3 100;0;0 1.40 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Propionicacidemia 606054" False 3 100;0;0 1.40 False ENSG00000114054 ENSG00000114054 HGNC:8654 PDE10A gene PDE10A Expert Review Green;Other Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dyskinesia, limb and orofacial, infantile-onset 616921;Striatal degeneration, autosomal dominant 616922 27058446;27058447 False 3 100;0;0 1.40 False ENSG00000112541 ENSG00000112541 HGNC:8772 PDGFB gene PDGFB Expert Review Green;Radboud University Medical Center, Nijmegen Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 5 615483 26129893 False 3 100;0;0 1.40 False ENSG00000100311 ENSG00000100311 HGNC:8800 PDGFRB gene PDGFRB Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 4 615007 23255827;27984190;26129893;25292412 False 3 100;0;0 1.40 False ENSG00000113721 ENSG00000113721 HGNC:8804 PDHA1 gene PDHA1 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Structural basal ganglia 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) Pyruvate dehydrogenase E1-alpha deficiency 312170 False 3 100;0;0 1.40 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDP1 gene PDP1 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency, 608782 19184109;15855260 False 3 100;0;0 1.40 False ENSG00000164951 ENSG00000164951 HGNC:9279 PLA2G6 gene PLA2G6 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Infantile neuroaxonal dystrophy 1 256600;Neurodegeneration with brain iron accumulation 2B 610217;Parkinson disease 14, autosomal recessive 612953" 16783378;18799783;18570303 False 3 100;0;0 1.40 False ENSG00000184381 ENSG00000184381 HGNC:9039 PRNP gene PRNP Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral amyloid angiopathy, PRNP-related 137440; Gerstmann-Straussler disease 137440; Huntington disease-like 1 603218; Creutzfeldt-Jakob disease 123400 False 3 100;0;0 1.40 False ENSG00000171867 ENSG00000171867 HGNC:9449 RAB39B gene RAB39B Emory Genetics Laboratory;Expert Review Green Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Waisman syndrome 311510 25434005;26399558;27448726;27943471;27838047 False 3 0;0;100 1.40 False ENSG00000155961 ENSG00000155961 HGNC:16499 SDHA gene SDHA Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 1.40 False ENSG00000073578 ENSG00000073578 HGNC:10680 SERAC1 gene SERAC1 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739;Lesions in the basal ganglia 29205472;29205472;22683713;16527507;28482397;28778788;27186703;27604308 False 3 100;0;0 1.40 False ENSG00000122335 ENSG00000122335 HGNC:21061 SLC19A3 gene SLC19A3 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483 False 3 100;0;0 1.40 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC20A2 gene SLC20A2 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 1 213600 False 3 100;0;0 1.40 False ENSG00000168575 ENSG00000168575 HGNC:10947 SLC25A19 gene SLC25A19 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Microcephaly, Amish type 607196;Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710" 17035501;12185364;19798730 False 3 100;0;0 1.40 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC30A10 gene SLC30A10 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, OMIM:613280 22341972;22341971 False 3 100;0;0 1.40 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC39A14 gene SLC39A14 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Hypermanganesemia with dystonia 2 617013" 27231142 False 3 100;0;0 1.40 False ENSG00000104635 ENSG00000104635 HGNC:20858 SUCLA2 gene SUCLA2 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 False 3 100;0;0 1.40 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 1.40 False ENSG00000163541 ENSG00000163541 HGNC:11449 SURF1 gene SURF1 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 1.40 False ENSG00000148290 ENSG00000148290 HGNC:11474 TOR1A gene TOR1A Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia-1, torsion, OMIM:128100;Dystonic disorder, MONDO:0003441 False 3 100;0;0 1.40 False ENSG00000136827 ENSG00000136827 HGNC:3098 TUBA1A gene TUBA1A Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3 611603 False 3 0;100;0 1.40 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB4A gene TUBB4A Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 6 612438 23582646;24850488;24526230 False 3 100;0;0 1.40 False ENSG00000104833 ENSG00000104833 HGNC:20774 VAC14 gene VAC14 Expert Review Green;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Striatonigral degeneration, childhood-onset 617054" 27292112;17956977;19037259 False 3 100;0;0 1.40 False ENSG00000103043 ENSG00000103043 HGNC:25507 VPS13A gene VPS13A Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Choreoacanthocytosis 200150 11381253;11381254;14663054 False 3 100;0;0 1.40 False ENSG00000197969 ENSG00000197969 HGNC:1908 WDR45 gene WDR45 Expert Review Green;Literature Structural basal ganglia 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) "Neurodegeneration with brain iron accumulation 5 300894" 23176820;23435086;22892189 False 3 100;0;0 1.40 False ENSG00000196998 ENSG00000196998 HGNC:28912 XPR1 gene XPR1 Expert Review Green;Other Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 6 616413 25938945 False 3 100;0;0 1.40 False ENSG00000143324 ENSG00000143324 HGNC:12827 GFAP gene GFAP Expert Review Amber;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Alexander disease 203450" 15732098;14557587 False 2 0;0;100 1.40 False ENSG00000131095 ENSG00000131095 HGNC:4235 AIFM1 gene AIFM1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined oxidative phosphorylation deficiency 6 300816 20362274 False 1 50;0;50 1.40 False ENSG00000156709 ENSG00000156709 HGNC:8768 BDNF gene BDNF Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital 209880 27780732;23649659 False 1 0;100;0 1.40 False ENSG00000176697 ENSG00000176697 HGNC:1033 DCAF10 gene DCAF10 Expert Review Red;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal False 1 100;0;0 1.40 False ENSG00000122741 ENSG00000122741 HGNC:23686 HEXA gene HEXA Expert Review Red;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "GM2-gangliosidosis, several forms 272800;Tay-Sachs disease 272800;[Hex A pseudodeficiency] 272800 AR" False 1 0;0;100 1.40 False ENSG00000213614 ENSG00000213614 HGNC:4878 HTT gene HTT Expert Review Red;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders Other Huntington disease, OMIM:143100 False 1 100;0;0 1.40 False ENSG00000197386 ENSG00000197386 HGNC:4851 NDUFA2 gene NDUFA2 Expert Review Red;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 18513682 False 1 50;0;50 1.40 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA9 gene NDUFA9 Expert Review Red;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leigh syndrome due to mitochondrial complex I deficiency 256000" 22114105 False 1 50;0;50 1.40 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFS3 gene NDUFS3 Expert Review Red;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leigh syndrome due to mitochondrial complex I deficiency 256000;Mitochondrial complex I deficiency 252010" False 1 50;0;50 1.40 False ENSG00000213619 ENSG00000213619 HGNC:7710 NUP62 gene NUP62 Expert Review Red;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Striatonigral degeneration, infantile 271930" 12374138;14718703;16786527 False 1 100;0;0 1.40 False ENSG00000213024 ENSG00000213024 HGNC:8066 PDX1 gene PDX1 Expert Review Red;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "MODY, type IV 606392;Pancreatic agenesis 1 260370" False 1 100;0;0 1.40 False ENSG00000139515 ENSG00000139515 HGNC:6107 SUOX gene SUOX Expert Review Red;Literature Structural basal ganglia disorders Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 1.40 False ENSG00000139531 ENSG00000139531 HGNC:11460