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 ATP13A2 gene ATP13A2 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 9, 606693;Kufor-Rakeb Syndrome False 3 100;0;0 1.128 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP1A3 gene ATP1A3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rapid-Onset Dystonia-Parkinsonism;Dystonia-12;rapid-onset dystonia-parkinsonism;alternating hemiplegia of childhood;CAPOS syndrome False 3 100;0;0 1.128 False ENSG00000105409 ENSG00000105409 HGNC:801 C19orf12 gene C19orf12 Expert list;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders 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 1.128 False ENSG00000131943 ENSG00000131943 HGNC:25443 CSF1R gene CSF1R Expert;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 23787135 False 3 100;0;0 1.128 False ENSG00000182578 ENSG00000182578 HGNC:2433 DCTN1 gene DCTN1 Expert;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Perry syndrome 20945553 (Gene Reviews); 19136952;20437543; 19136952;24343258;27346608;27132499 False 3 100;0;0 1.128 False ENSG00000204843 ENSG00000204843 HGNC:2711 DNAJC6 gene DNAJC6 Expert Review Green;Radboud University Medical Center, Nijmegen Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 19b, early-onset, OMIM:615528;Parkinson disease 19a juvenile-onset, OMIM:615528;juvenile onset Parkinson disease 19A, MONDO:0014231 27687717;22563501;23211418;26528954;34175496;26703368;33181391;32472658 False 3 100;0;0 1.128 False ENSG00000116675 ENSG00000116675 HGNC:15469 FBXO7 gene FBXO7 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 15, autosomal recessive, 260300;Parkinson Disease, Recessive;Early Onset Complex Disease;parkinsonian-pyramidal syndrome False 3 100;0;0 1.128 False ENSG00000100225 ENSG00000100225 HGNC:13586 FTL gene FTL Expert;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration with brain iron accumulation 3;movement disorder 24209436;http://www.ncbi.nlm.nih.gov/pubmed/24209436 False 3 100;0;0 1.128 False ENSG00000087086 ENSG00000087086 HGNC:3999 GBA gene GBA Expert Review Green;Radboud University Medical Center, Nijmegen Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Parkinson disease, late-onset, susceptibility to}, 168600 27779773;27632223;27648471;27717005;29400127 False 3 33;0;67 1.128 False ENSG00000177628 ENSG00000177628 HGNC:4177 GCH1 gene GCH1 Expert list;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Hyperphenylalaninemia, BH4-deficient, B, 233910; Dopa-Responsive Dystonia (DRD) ; Dopa-Responsive Dystonia (DRD) False 3 100;0;0 1.128 False ENSG00000131979 ENSG00000131979 HGNC:4193 GRN gene GRN Eligibility statement prior genetic testing;Expert;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown clinical presentation suggestive of cortico-basal/PSP syndrome;frontotemporal lobar degeneration with TDP43 inclusions;Complex parkinsonism 20301545;17923627 False 3 100;0;0 1.128 False ENSG00000030582 ENSG00000030582 HGNC:4601 LRRK2 gene LRRK2 Eligibility statement prior genetic testing;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson disease 8, 607060;Parkinson Disease, Dominant;Parkinson Disease 8, Autosomal Dominant;PARKINSON DISEASE 8, AUTOSOMAL DOMINANT;LRRK2 G2019S mutation;Autosomal dominant Parkinson's disease 25391693;27090875;28395805;28395804;28395803;28395802 False 3 100;0;0 1.128 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000188906 ENSG00000188906 HGNC:18618 LYST gene LYST Expert Review Green;Other Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinsonism;albinism;peripheral neuropathy;Chediak-Higashi syndrome 214500 23436631;8896560;9215679;9215680;11857544 False 3 100;0;0 1.128 False ENSG00000143669 ENSG00000143669 HGNC:1968 MAPT gene MAPT Eligibility statement prior genetic testing;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dementia, frontotemporal, with or without parkinsonism, 600274; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Supranuclear palsy, progressive, 601104; Supranuclear palsy, progressive atypical, 260540; Tauopathy and r;Pick disease, 172700;PARKINSON-DEMENTIA SYNDROME;clinical presentation suggestive of cortico-basal/PSP syndrome 28334843;20301678 False 3 100;0;0 1.128 False ENSG00000186868 ENSG00000186868 HGNC:6893 OPA3 gene OPA3 Expert Review Green;Literature;Other Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome 25201222; 11668429; 24944951; 25657044; 20301646 False 3 100;0;0 1.128 False ENSG00000125741 ENSG00000125741 HGNC:8142 PANK2 gene PANK2 Exper;Expert list;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Complex Disease;Dystonia;pantothenate kinase-associated neurodegeneration;Dystonia;Neurodegeneration with brain iron accumulation 1;234200 False 3 100;0;0 1.128 False ENSG00000125779 ENSG00000125779 HGNC:15894 PARK7 gene PARK7 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 7 autosomal recessive early-onset;606324 False 3 100;0;0 1.128 False ENSG00000116288 ENSG00000116288 HGNC:16369 PDGFB gene PDGFB Expert list;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 5, OMIM:615483;basal ganglia calcification, idiopathic, 5, MONDO:0014204 26129893;23913003;30952898;30609140;35747618 False 3 100;0;0 1.128 False ENSG00000100311 ENSG00000100311 HGNC:8800 PINK1 gene PINK1 Eligibility statement prior genetic testing;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset, 605909;Parkinson Disease 6, Autosomal Recessive Early-Onset False 3 100;0;0 1.128 False ENSG00000158828 ENSG00000158828 HGNC:14581 PLA2G6 gene PLA2G6 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Infantile neuroaxonal dystrophy 1, 256600; Neurodegeneration with brain iron accumulation 2B, 610217; Parkinson disease 14, 612953;Early Onset Complex Disease False 3 100;0;0 1.128 False ENSG00000184381 ENSG00000184381 HGNC:9039 PRKN gene PRKN Eligibility statement prior genetic testing;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson Disease, Juvenile;Parkinson Disease 2, Autosomal Recessive Juvenile PMID: 22956510 False 3 100;0;0 1.128 False ENSG00000185345 ENSG00000185345 HGNC:8607 PRKRA gene PRKRA Expert;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Complex Disease;Early-Onset Generalized Dystonia-Parkinsonism;Dystonia 16;early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa "PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state ""Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance"";25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous;25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism;25914261;22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa;18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L);24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation;18420150 - a novel heterozygous variant c.266_267delAT;p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned)." False 3 100;0;0 1.128 False ENSG00000180228 ENSG00000180228 HGNC:9438 PTRHD1 gene PTRHD1 Expert Review Green;Other Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, OMIM:620747 30398675;27134041;29143421;27753167 False 3 100;0;0 1.128 True ENSG00000184924 ENSG00000184924 HGNC:33782 RAB39B gene RAB39B Expert;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders 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) Waisman syndrome, OMIM:311510;early-onset parkinsonism and intellectual disability 25434005;26399558;27694831;27459931;27066548;2639955 False 3 100;0;0 1.128 False ENSG00000155961 ENSG00000155961 HGNC:16499 SLC30A10 gene SLC30A10 Expert Review Green;Illumina TruGenome Clinical Sequencing Services Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, OMIM:613280;Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 22341971;22341972;22926781;22934317 False 3 100;0;0 1.128 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC39A14 gene SLC39A14 Expert Review;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Hypermanganesemia with dystonia 2 617013" False 3 100;0;0 1.128 False ENSG00000104635 ENSG00000104635 HGNC:20858 SLC6A3 gene SLC6A3 Expert Review Green;Radboud University Medical Center, Nijmegen Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinsonism-dystonia, infantile, 613135 False 3 100;0;0 1.128 False ENSG00000142319 ENSG00000142319 HGNC:11049 SNCA gene SNCA Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson disease 4, 605543;Dementia, Lewy body, 127750;Parkinson disease 1, 168601;Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4) False 3 100;0;0 1.128 False Other - please provide details in the comments ENSG00000145335 ENSG00000145335 HGNC:11138 SPG11 gene SPG11 Expert;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Complex Disease;hereditary spastic paraparesis;early onset parkinsonism, levo dopa responsve;Complex parkinsonism 19224311;21381113;27820618 False 3 100;0;0 1.128 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPR gene SPR Expert list;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716;paediatric form of dopa responsive dystonia http://www.ncbi.nlm.nih.gov/books/NBK1155/;22522443 False 3 100;0;0 1.128 False ENSG00000116096 ENSG00000116096 HGNC:11257 SYNJ1 gene SYNJ1 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 20, early-onset, 615530;Early Onset Complex Disease;juvenile Parkinsonism 26149920;27496670;27435091 False 3 100;0;0 1.128 False ENSG00000159082 ENSG00000159082 HGNC:11503 TH gene TH Expert list;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Segawa syndrome, recessive, 605407;paediatric form of dopa responsive dystonia;infantile parkinsonism http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 3 100;0;0 1.128 False ENSG00000180176 ENSG00000180176 HGNC:11782 TUBB4A gene TUBB4A Expert list;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Complex parkinsonism;Dystonia;?Dystonia 4, torsion, autosomal dominant, 128101;hereditary whispering dysphonia;Dystonia;hypomyelinating leukodystrophy 6 27809427 False 3 100;0;0 1.128 False ENSG00000104833 ENSG00000104833 HGNC:20774 VPS13A gene VPS13A Expert list;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Choreoacanthocytosis;200150;Complex parkinsonism 11381253 False 3 100;0;0 1.128 False ENSG00000197969 ENSG00000197969 HGNC:1908 VPS35 gene VPS35 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson disease 17, 614203;Parkinson Disease, Dominant;PARKINSON DISEASE 17;PARK17;late onset parkinson disease 21763482;22991136;21763483;22517097;27777137;24854799;26547032;23408866 False 3 100;0;0 1.128 False ENSG00000069329 ENSG00000069329 HGNC:13487 WDR45 gene WDR45 Expert;Expert list;Expert Review Green Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders 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) Dystonia; beta-propeller protein-associated neurodegeneration ;beta-propeller protein-associated neurodegeneration False 3 100;0;0 1.128 False ENSG00000196998 ENSG00000196998 HGNC:28912 ATN1_CAG str ATN1 Expert Review Green;NHS GMS;Expert Review Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy, OMIM:125370 False 3 0;0;0 1.128 True ENSG00000111676 ENSG00000111676 HGNC:3033 12 7045880 7045936 6936717 6936772 CAG 36 48 ATXN1_CAG str ATXN1 Expert Review Green;NHS GMS;Expert Review Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 3 0;0;0 1.128 True ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 ATXN2_CAG str ATXN2 Expert Review Green;NHS GMS;Expert list Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 False 3 100;0;0 1.128 True ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 ATXN3_CAG str ATXN3 Expert Review Green;NHS GMS;Expert list Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 3 100;0;0 1.128 True ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 C9orf72_GGGGCC str C9orf72 Expert Review Green;NHS GMS;Expert list Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 False 3 100;0;0 1.128 True ENSG00000147894 ENSG00000147894 HGNC:28337 9 27573527 27573544 27573529 27573546 GGGGCC 24 200 HTT_CAG str HTT Expert Review Green;NHS GMS;Expert list Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Huntington disease, OMIM:143100 24256063 False 3 100;0;0 1.128 True ENSG00000197386 ENSG00000197386 HGNC:4851 4 3076604 3076666 3074877 3074939 CAG 36 40 JPH3_CTG str JPH3 Expert Review Green;NHS GMS;Expert list Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Huntington disease-like 2, OMIM:606438 False 3 100;0;0 1.128 True ENSG00000154118 ENSG00000154118 HGNC:14203 16 87637894 87637932 87604288 87604326 CTG 29 40 PPP2R2B_CAG str PPP2R2B Expert Review Green;NHS GMS;Expert Review Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 12, OMIM:604326 False 3 100;0;0 1.128 True ENSG00000156475 ENSG00000156475 HGNC:9305 5 146258292 146258321 146878729 146878758 CAG 33 43 TBP_CAG str TBP Expert Review Green;NHS GMS;Expert list Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17, OMIM:607136;{Parkinson disease, susceptibility to}, OMIM:168600 20301611;34906452;35493319 False 3 100;0;0 1.128 True ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49