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 Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6;neuroinflammatory disorder with cerebral calcification;progressive loss of cognition;spasticity;dystonia;parkinsonism;OMIM 615010 Abnormality of extrapyramidal motor function;HP:0002071 PMID: 32911246 False 3 100;0;0 2.10 True ENSG00000160710 ENSG00000160710 HGNC:225 ATP13A2 gene ATP13A2 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal parkinsonism due to ATP13A2 deficiency MONDO:0017809 Abnormality of extrapyramidal motor function;HP:0002071 25900096;20301402 False 3 100;0;0 2.10 True ENSG00000159363 ENSG00000159363 HGNC:30213 ATP1A3 gene ATP1A3 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ATP1A3-associated neurological disorder MONDO:0700002 Abnormality of extrapyramidal motor function;HP:0002071 20301294;17282997;15260953;17595045;17516473;22534615 False 3 100;0;0 2.10 True ENSG00000105409 ENSG00000105409 HGNC:801 ATP6AP2 gene ATP6AP2 Expert list;Expert Review Green Early-onset Parkinson disease Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Parkinsonism with spasticity, X-linked, MIM# 300911" Abnormality of extrapyramidal motor function;HP:0002071 30985297;23595882 False 3 100;0;0 2.10 True ENSG00000182220 ENSG00000182220 HGNC:18305 ATP7B gene ATP7B Expert list;Expert Review Green Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wilson disease MIM#277900 Abnormality of extrapyramidal motor function;HP:0002071 17435591 False 3 50;50;0 2.10 True ENSG00000123191 ENSG00000123191 HGNC:870 C19orf12 gene C19orf12 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodegeneration with brain iron accumulation 4 MONDO:0013674 Abnormality of extrapyramidal motor function;HP:0002071 21981780;23278385;23447832 False 3 100;0;0 2.10 True ENSG00000131943 ENSG00000131943 HGNC:25443 C9orf3 gene C9orf3 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia 31, MIM# 619565;Childhood/Adolescence onset generalised dystonia;Dystonia parkinsonism;Zech-Boesch Syndrome Abnormality of extrapyramidal motor function;HP:0002071 PMID: 35306330 False 3 100;0;0 2.10 True ENSG00000148120 ENSG00000148120 HGNC:1361 CHCHD2 gene CHCHD2 Expert list;Expert Review Green Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease 22, autosomal dominant MIM#616710 Abnormality of extrapyramidal motor function;HP:0002071 32068847;25662902;31600778;26705026 False 3 100;0;0 2.10 False ENSG00000106153 ENSG00000106153 HGNC:21645 CLN3 gene CLN3 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3 MIM#204200 Abnormality of extrapyramidal motor function;HP:0002071 19489875;11342698 False 3 100;0;0 2.10 True ENSG00000188603 ENSG00000188603 HGNC:2074 CP gene CP Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aceruloplasminaemia, MIM#604290 Abnormality of extrapyramidal motor function;HP:0002071 False 3 100;0;0 2.10 True ENSG00000047457 ENSG00000047457 HGNC:2295 CSF1R gene CSF1R Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0800027 Abnormality of extrapyramidal motor function;HP:0002071 25935893;22934315;22934315 False 3 100;0;0 2.10 True ENSG00000182578 ENSG00000182578 HGNC:2433 CYP27A1 gene CYP27A1 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Cerebrotendinous xanthomatosis, MIM# 213700;Cerebrotendinous xanthomatosis, infantile-onset diarrhoea, juvenile-onset cataract, young adult-onset tendon xanthomas;Epilepsy;Parkinsonism;Ataxia;Peripheral neuropathy" Abnormality of extrapyramidal motor function;HP:0002071 PMID: 30054180 False 3 100;0;0 2.10 True ENSG00000135929 ENSG00000135929 HGNC:2605 DCTN1 gene DCTN1 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Perry syndrome MONDO:0008201 Abnormality of extrapyramidal motor function;HP:0002071 20945553 False 3 100;0;0 2.10 True ENSG00000204843 ENSG00000204843 HGNC:2711 DNAJC12 gene DNAJC12 Expert Review;Expert Review Green Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Abnormality of extrapyramidal motor function;HP:0002071 False 3 100;0;0 2.10 True ENSG00000108176 ENSG00000108176 HGNC:28908 DNAJC5 gene DNAJC5 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350 Abnormality of extrapyramidal motor function;HP:0002071 22978711;21820099;22235333 False 3 100;0;0 2.10 True ENSG00000101152 ENSG00000101152 HGNC:16235 DNAJC6 gene DNAJC6 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal juvenile onset Parkinson disease 19A MONDO:0014231 Abnormality of extrapyramidal motor function;HP:0002071 33983693 False 3 100;0;0 2.10 True ENSG00000116675 ENSG00000116675 HGNC:15469 EIF2AK2 gene EIF2AK2 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877;Neurodevelopmental Syndrome;Developmental delays;Ataxia;Parkinsonism;White matter alterations Abnormality of extrapyramidal motor function;HP:0002071 PMID: 32197074 False 3 100;0;0 2.10 True ENSG00000055332 ENSG00000055332 HGNC:9437 FBXO7 gene FBXO7 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal parkinsonian-pyramidal syndrome MONDO:0009830 Abnormality of extrapyramidal motor function;HP:0002071 20301402 False 3 100;0;0 2.10 True ENSG00000100225 ENSG00000100225 HGNC:13586 FOXG1 gene FOXG1 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Rett syndrome, congenital variant, MIM# 613454;Developmental and Epileptic Encephalopathy;Dystonia,;Athetosis;Parkinsonism;Stereotypies" Abnormality of extrapyramidal motor function;HP:0002071 PMID: 21953941 False 3 100;0;0 2.10 True ENSG00000176165 ENSG00000176165 HGNC:3811 FRRS1L gene FRRS1L Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 37, MIM# 616981;Seizures;Chorea;Parkinsonism;Developmental delay Abnormality of extrapyramidal motor function;HP:0002071 PMID: 29086067 False 3 100;0;0 2.10 True ENSG00000260230 ENSG00000260230 HGNC:1362 FTL gene FTL Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Abnormality of extrapyramidal motor function;HP:0002071 23447832;20301320 False 3 100;0;0 2.10 False ENSG00000087086 ENSG00000087086 HGNC:3999 GBA gene GBA Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson's disease, MONDO:0005180, GBA-related Abnormality of extrapyramidal motor function;HP:0002071 PMID: 12809640;35639160 False 3 100;0;0 2.10 True ENSG00000177628 ENSG00000177628 HGNC:4177 GCH1 gene GCH1 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Abnormality of extrapyramidal motor function;HP:0002071 32170445;32278297;32746945;30314816 False 3 100;0;0 2.10 True ENSG00000131979 ENSG00000131979 HGNC:4193 GLB1 gene GLB1 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type III , MIM#230650;Parkinsonism Abnormality of extrapyramidal motor function;HP:0002071 PMID: 34514040 False 3 100;0;0 2.10 True ENSG00000170266 ENSG00000170266 HGNC:4298 GRN gene GRN Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM# 607485 Abnormality of extrapyramidal motor function;HP:0002071 17923627;20301545 False 3 100;0;0 2.10 False ENSG00000030582 ENSG00000030582 HGNC:4601 KIAA1161 gene KIAA1161 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317;Primary familial brain calcification;Atypical parkinsonism;Supranuclear gaze palsy Abnormality of extrapyramidal motor function;HP:0002071 32211515;30656188;30649222;30460687;29910000;31951047 False 3 100;0;0 2.10 True ENSG00000164976 ENSG00000164976 HGNC:19918 KMT2B gene KMT2B Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 28, childhood-onset , MIM#617284 Abnormality of extrapyramidal motor function;HP:0002071 PMID: 33816656 False 3 100;0;0 2.10 True ENSG00000272333 ENSG00000272333 HGNC:15840 LRRK2 gene LRRK2 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Abnormality of extrapyramidal motor function;HP:0002071 False 3 100;0;0 2.10 False ENSG00000188906 ENSG00000188906 HGNC:18618 LYST gene LYST Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome MONDO:0008963 Abnormality of extrapyramidal motor function;HP:0002071 23436631;23521865;20301751 False 3 100;0;0 2.10 True ENSG00000143669 ENSG00000143669 HGNC:1968 MAPT gene MAPT Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted late-onset Parkinson disease MONDO:0008199 Abnormality of extrapyramidal motor function;HP:0002071 20301678 False 3 100;0;0 2.10 True ENSG00000186868 ENSG00000186868 HGNC:6893 MECP2 gene MECP2 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females MECP2-related disorders;Rett syndrome, MIM# 312750;Mental retardation, X-linked, syndromic 13, MIM# 300055 Abnormality of extrapyramidal motor function;HP:0002071 31970230;27050783 False 3 100;0;0 2.10 True ENSG00000169057 ENSG00000169057 HGNC:6990 NPC1 gene NPC1 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Niemann-Pick disease, MIM# 257220;Parkinsonism Abnormality of extrapyramidal motor function;HP:0002071 24035292;30369906 False 3 100;0;0 2.10 True ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Niemann Pick C2, OMIM 607625;Parkinsonism Abnormality of extrapyramidal motor function;HP:0002071 PMID: 35695805 False 3 100;0;0 2.10 True ENSG00000119655 ENSG00000119655 HGNC:14537 NR4A2 gene NR4A2 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911 Abnormality of extrapyramidal motor function;HP:0002071 31922365 False 3 100;0;0 2.10 True ENSG00000153234 ENSG00000153234 HGNC:7981 NUS1 gene NUS1 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder, autosomal dominant 55, with seizures, MIM# 617831;Parkinsonism;Developmental delay;Intellectual disability;Ataxia;Myoclonus" Abnormality of extrapyramidal motor function;HP:0002071 PMID: 32485575;30348779 False 3 100;0;0 2.10 True ENSG00000153989 ENSG00000153989 HGNC:21042 PANK2 gene PANK2 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal pantothenate kinase-associated neurodegeneration MONDO:0009319 Abnormality of extrapyramidal motor function;HP:0002071 23447832;20301663 False 3 0;0;0 2.10 True ENSG00000125779 ENSG00000125779 HGNC:15894 PARK7 gene PARK7 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive early-onset Parkinson disease 7 MONDO:0011658 Abnormality of extrapyramidal motor function;HP:0002071 20301402 False 3 100;0;0 2.10 True ENSG00000116288 ENSG00000116288 HGNC:16369 PDE8B gene PDE8B Expert Review;Expert Review Green Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Striatal degeneration, autosomal dominant, MIM#609161 Abnormality of extrapyramidal motor function;HP:0002071 20085714;26769607;26475694 False 3 100;0;0 2.10 True ENSG00000113231 ENSG00000113231 HGNC:8794 PDGFB gene PDGFB Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 5, MIM# 615483 Abnormality of extrapyramidal motor function;HP:0002071 23913003 False 3 100;0;0 2.10 True ENSG00000100311 ENSG00000100311 HGNC:8800 PDGFRB gene PDGFRB Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 4, MIM# 615007 Abnormality of extrapyramidal motor function;HP:0002071 23255827;30979360 False 3 100;0;0 2.10 True ENSG00000113721 ENSG00000113721 HGNC:8804 PGK1 gene PGK1 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency, MIM# 300653;Haemolytic anaemia;Rhabdomyolysis;Myopathy;Juvenile Parkinsonism;OMIM 300653 Abnormality of extrapyramidal motor function;HP:0002071 PMID: 30975619 False 3 100;0;0 2.10 True ENSG00000102144 ENSG00000102144 HGNC:8896 PINK1 gene PINK1 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset MIM#605909 Abnormality of extrapyramidal motor function;HP:0002071 28980524 False 3 100;0;0 2.10 True ENSG00000158828 ENSG00000158828 HGNC:14581 PLA2G6 gene PLA2G6 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive Parkinson disease 14 MONDO:0013060 Abnormality of extrapyramidal motor function;HP:0002071 20301718 False 3 100;0;0 2.10 True ENSG00000184381 ENSG00000184381 HGNC:9039 POLG gene POLG Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant progressive external ophthalmoplegia MONDO:0008003 Abnormality of extrapyramidal motor function;HP:0002071 20301791;15351195 False 3 100;0;0 2.10 True ENSG00000140521 ENSG00000140521 HGNC:9179 POLR3A gene POLR3A Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694;POLR3A Leukoencephalopathy;Parkinsonism;Ocular and dental abnormality;Hypogonadism Abnormality of extrapyramidal motor function;HP:0002071 PMID: 33652360 False 3 100;0;0 2.10 True ENSG00000148606 ENSG00000148606 HGNC:30074 PPP2R5D gene PPP2R5D Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early onset Parkinsonism;Houge-Janssens syndrome 1, MIM#616355 Abnormality of extrapyramidal motor function;HP:0002071 33338668;32743835 False 3 100;0;0 2.10 True ENSG00000112640 ENSG00000112640 HGNC:9312 PRKCG gene PRKCG Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 14, MIM# 605361;Myoclonus;Parkinsonism Abnormality of extrapyramidal motor function;HP:0002071 PMID: 29603387 False 3 100;0;0 2.10 True ENSG00000126583 ENSG00000126583 HGNC:9402 PRKN gene PRKN Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive juvenile Parkinson disease 2 MONDO:0010820 Abnormality of extrapyramidal motor function;HP:0002071 False 3 100;0;0 2.10 True ENSG00000185345 ENSG00000185345 HGNC:8607 PRKRA gene PRKRA Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal dystonia 16 MONDO:0012789 Abnormality of extrapyramidal motor function;HP:0002071 33502045 False 3 100;0;0 2.10 True ENSG00000180228 ENSG00000180228 HGNC:9438 PRNP gene PRNP Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inherited Creutzfeldt-Jakob disease MONDO:0007403;Gerstmann-Straussler-Scheinker syndrome MONDO:0007656 Abnormality of extrapyramidal motor function;HP:0002071 20301407 False 3 100;0;0 2.10 True ENSG00000171867 ENSG00000171867 HGNC:9449 PSAP gene PSAP Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson disease 24, autosomal dominant, susceptibility to, MIM# 619491 Abnormality of extrapyramidal motor function;HP:0002071 32201884 False 3 100;0;0 2.10 True ENSG00000197746 ENSG00000197746 HGNC:9498 PSEN1 gene PSEN1 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease 3 MONDO:0011913 Abnormality of extrapyramidal motor function;HP:0002071 3548932;34843019;36825052 False 3 100;0;0 2.10 True ENSG00000080815 ENSG00000080815 HGNC:9508 PSMF1 gene PSMF1 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related Abnormality of extrapyramidal motor function;HP:0002071 https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1 False 3 100;0;0 2.10 True ENSG00000125818 ENSG00000125818 HGNC:9571 PTRHD1 gene PTRHD1 Expert list;Expert Review Green Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747 Abnormality of extrapyramidal motor function;HP:0002071 27753167;27134041;30398675;29143421 False 3 100;0;0 2.10 True ENSG00000184924 ENSG00000184924 HGNC:33782 PTS gene PTS Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Abnormality of extrapyramidal motor function;HP:0002071 False 3 100;0;0 2.10 True ENSG00000150787 ENSG00000150787 HGNC:9689 QDPR gene QDPR Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C, MIM#261630;Dehydropteridin reductase deficiency, Infantile-onset dystonia;Parkinsonism;Epilepsy;Autonomic dysfunction;Hyperphenylalaninemia Abnormality of extrapyramidal motor function;HP:0002071 PMID: 28413401 False 3 100;0;0 2.10 True ENSG00000151552 ENSG00000151552 HGNC:9752 RAB39B gene RAB39B Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Early-onset parkinsonism-intellectual disability syndrome MONDO:0010709 Abnormality of extrapyramidal motor function;HP:0002071 25434005;26399558;26739247 False 3 100;0;0 2.10 True ENSG00000155961 ENSG00000155961 HGNC:16499 SCN1A gene SCN1A Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dravet syndrome, MIM# 607208;Epilepsy, Paekinsonism Abnormality of extrapyramidal motor function;HP:0002071 PMID: 28186331;24850485 False 3 100;0;0 2.10 True ENSG00000144285 ENSG00000144285 HGNC:10585 SERAC1 gene SERAC1 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739;Parkinsonism Abnormality of extrapyramidal motor function;HP:0002071 PMID: 29332177;16527507 False 3 100;0;0 2.10 True ENSG00000122335 ENSG00000122335 HGNC:21061 SLC18A2 gene SLC18A2 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinsonism-dystonia, infantile, 2 , MIM# 618049;Brain dopamine-serotonin transport disease, Childhood-onset parkinsonism Abnormality of extrapyramidal motor function;HP:0002071 33983693;23363473;31240161;26497564 False 3 100;0;0 2.10 True ENSG00000165646 ENSG00000165646 HGNC:10935 SLC19A3 gene SLC19A3 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483;Childhood onset Dystonia and Parkinsonism Abnormality of extrapyramidal motor function;HP:0002071 PMID: 24260777 False 3 100;0;0 2.10 True ENSG00000135917 ENSG00000135917 HGNC:16266 SLC20A2 gene SLC20A2 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 1, MIM# 213600 Abnormality of extrapyramidal motor function;HP:0002071 22327515;23334463 False 3 100;0;0 2.10 True ENSG00000168575 ENSG00000168575 HGNC:10947 SLC30A10 gene SLC30A10 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0013208 Abnormality of extrapyramidal motor function;HP:0002071 22341971;22341972 False 3 100;0;0 2.10 True ENSG00000196660 ENSG00000196660 HGNC:25355 SLC39A14 gene SLC39A14 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 2 (MIM# 617013) Abnormality of extrapyramidal motor function;HP:0002071 27231142;32626807;29685658;30232769 False 3 100;0;0 2.10 True ENSG00000104635 ENSG00000104635 HGNC:20858 SLC6A3 gene SLC6A3 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinsonism-dystonia, infantile, 1, MIM# 613135 Abnormality of extrapyramidal motor function;HP:0002071 21112253 False 3 100;0;0 2.10 True ENSG00000142319 ENSG00000142319 HGNC:11049 SNCA gene SNCA Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dementia, Lewy body (MIM#127750);Parkinson disease 1 (MIM#168601);Parkinson disease 4 (MIM#605543) Abnormality of extrapyramidal motor function;HP:0002071 32849182;26858591;32740728 False 3 100;0;0 2.10 True ENSG00000145335 ENSG00000145335 HGNC:11138 SOX6 gene SOX6 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Tolchin-Le Caignec syndrome, MIM# 618971;Developmental delay;ID;ASD;ADHD;Parkinsonism;Syringomyelia" Abnormality of extrapyramidal motor function;HP:0002071 24453155;25127144 False 3 100;0;0 2.10 True ENSG00000110693 ENSG00000110693 HGNC:16421 SPG11 gene SPG11 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal hereditary spastic paraplegia 11 MONDO:0011445 Abnormality of extrapyramidal motor function;HP:0002071 35036589;23121729;21381113;27217339 False 3 100;0;0 2.10 True ENSG00000104133 ENSG00000104133 HGNC:11226 SPG7 gene SPG7 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 7, autosomal recessive, MIM# 607259;Ataxia;Progressive external opthalmoplegia;Parkinsonism" Abnormality of extrapyramidal motor function;HP:0002071 PMID: 31433872 False 3 100;0;0 2.10 True ENSG00000197912 ENSG00000197912 HGNC:11237 SPR gene SPR Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994 Abnormality of extrapyramidal motor function;HP:0002071 22522443;11920285;14663042;16443856;21782285;32813147 False 3 0;100;0 2.10 True ENSG00000116096 ENSG00000116096 HGNC:11257 STUB1 gene STUB1 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar Ataxia 48, OMIM 618093;Parkinsonism Abnormality of extrapyramidal motor function;HP:0002071 30381368;32285148;32337344 False 3 100;0;0 2.10 True ENSG00000103266 ENSG00000103266 HGNC:11427 STXBP1 gene STXBP1 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 4, MIM# 612164;Juvenile onset Parkinsonism Abnormality of extrapyramidal motor function;HP:0002071 25418441;32643187;29929108 False 3 100;0;0 2.10 True ENSG00000136854 ENSG00000136854 HGNC:11444 SYNJ1 gene SYNJ1 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 20, early-onset, MIM# 615530 Abnormality of extrapyramidal motor function;HP:0002071 23804563;23804577;27496670;33841314 False 3 100;0;0 2.10 True ENSG00000159082 ENSG00000159082 HGNC:11503 TBC1D24 gene TBC1D24 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 16, MIM# 615338;Intellectual disability;Parkinsonism;Seizures;Psychosis Abnormality of extrapyramidal motor function;HP:0002071 PMID: 28663785;21087195 False 3 100;0;0 2.10 True ENSG00000162065 ENSG00000162065 HGNC:29203 TH gene TH Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Tyrosine hydroxylase deficiency MONDO:0100064 Abnormality of extrapyramidal motor function;HP:0002071 20301334;20301610 False 3 100;0;0 2.10 True ENSG00000180176 ENSG00000180176 HGNC:11782 TPP1 gene TPP1 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2, MIM# 204500;Parkinsonism Abnormality of extrapyramidal motor function;HP:0002071 PMID: 21940688 False 3 100;0;0 2.10 True ENSG00000166340 ENSG00000166340 HGNC:2073 TWNK gene TWNK Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Abnormality of extrapyramidal motor function;HP:0002071 24076137;22949510;22580846;19353676 False 3 100;0;0 2.10 True ENSG00000107815 ENSG00000107815 HGNC:1160 UBTF gene UBTF Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672;Parkinsonism;Dystonia;Chorea;Brain atrophy Abnormality of extrapyramidal motor function;HP:0002071 PubMed: 28777933;29300972 False 3 100;0;0 2.10 True ENSG00000108312 ENSG00000108312 HGNC:12511 VAC14 gene VAC14 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, childhood-onset, MIM# 617054;Dystonia;Parkinsonism Abnormality of extrapyramidal motor function;HP:0002071 PMID: 31392254;28502045 False 3 100;0;0 2.10 True ENSG00000103043 ENSG00000103043 HGNC:25507 VCP gene VCP Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507 Abnormality of extrapyramidal motor function;HP:0002071 38283104;38145206 False 3 100;0;0 2.10 True Other ENSG00000165280 ENSG00000165280 HGNC:12666 VPS13A gene VPS13A Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal chorea-acanthocytosis MONDO:0008695 Abnormality of extrapyramidal motor function;HP:0002071 20301561;37636221 False 3 100;0;0 2.10 True ENSG00000197969 ENSG00000197969 HGNC:1908 VPS13C gene VPS13C Expert list;Expert Review Green Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 23, autosomal recessive, early onset MIM#616840 Abnormality of extrapyramidal motor function;HP:0002071 26942284;30452786;28862745 False 3 100;0;0 2.10 True ENSG00000129003 ENSG00000129003 HGNC:23594 VPS35 gene VPS35 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease 17, MIM# 614203 Abnormality of extrapyramidal motor function;HP:0002071 21763482;21763483;22801713;34704029 False 3 100;0;0 2.10 True ENSG00000069329 ENSG00000069329 HGNC:13487 WARS2 gene WARS2 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinsonism-dystonia 3, childhood-onset, MIM# 619738 Abnormality of extrapyramidal motor function;HP:0002071 PMID: 29120065;34890876;31970218 False 3 100;0;0 2.10 True ENSG00000116874 ENSG00000116874 HGNC:12730 WDR45 gene WDR45 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease 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) X-linked complex neurodevelopmental disorder MONDO:0100148 Abnormality of extrapyramidal motor function;HP:0002071 28211668 False 3 100;0;0 2.10 True ENSG00000196998 ENSG00000196998 HGNC:28912 XPR1 gene XPR1 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 6, MIM# 616413 Abnormality of extrapyramidal motor function;HP:0002071 25938945 False 3 100;0;0 2.10 True ENSG00000143324 ENSG00000143324 HGNC:12827 ZFYVE26 gene ZFYVE26 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 15, autosomal recessive, MIM# 270700;Spastic paraplegia and retinal degeneration;Kjellin syndrome;Parkinsonism" Abnormality of extrapyramidal motor function;HP:0002071 PMID: 33033739;21462267 False 3 100;0;0 2.10 True ENSG00000072121 ENSG00000072121 HGNC:20761 AFG3L2 gene AFG3L2 Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 28, MIM# 610246;optic atrophy;spastic ataxia;L-dopa-responsive parkinsonism Abnormality of extrapyramidal motor function;HP:0002071 30252181;36110148 False 2 33;33;33 2.10 True ENSG00000141385 ENSG00000141385 HGNC:315 APP gene APP Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease 1, familial, MIM# 104300 Abnormality of extrapyramidal motor function;HP:0002071 False 2 0;100;0 2.10 True ENSG00000142192 ENSG00000142192 HGNC:620 COASY gene COASY Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6, MIM# 615643 Abnormality of extrapyramidal motor function;HP:0002071 28489334;24360804 False 2 0;100;0 2.10 True ENSG00000068120 ENSG00000068120 HGNC:29932 DDC gene DDC Expert Review Amber;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, MIM# 608643;Infantile-onset parkinsonism & dystonia;Bulbar dysfunction;Oculogyric crisis;Autonomic dysfunction;Intellectual disability Abnormality of extrapyramidal motor function;HP:0002071 PMID: 33983693 False 2 50;50;0 2.10 True ENSG00000132437 ENSG00000132437 HGNC:2719 DHDDS gene DHDDS Expert Review Amber;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay and seizures with or without movement abnormalities, MIM# 617836;Myoclonic Epilepsy;Parkinsonism;Ataxia;Intellectual disability Abnormality of extrapyramidal motor function;HP:0002071 PMID: 34837344;29100083 False 2 50;50;0 2.10 True ENSG00000117682 ENSG00000117682 HGNC:20603 EPM2A gene EPM2A Expert Review Amber;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780;Progressive Myoclonic Epilepsy;Parkinsonism Abnormality of extrapyramidal motor function;HP:0002071 27574708;28818698 False 2 50;50;0 2.10 True ENSG00000112425 ENSG00000112425 HGNC:3413 KIF5A gene KIF5A Expert Review Amber;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia 10, autosomal dominant MIM#604187 Abnormality of extrapyramidal motor function;HP:0002071 18853458 False 2 0;100;0 2.10 True ENSG00000155980 ENSG00000155980 HGNC:6323 NHLRC1 gene NHLRC1 Expert Review Amber;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780;Lafora disease;Progressive Myoclonic Epilepsy;Parkinsonism Abnormality of extrapyramidal motor function;HP:0002071 22425593;32301727 False 2 50;50;0 2.10 True ENSG00000187566 ENSG00000187566 HGNC:21576 PNPLA6 gene PNPLA6 Expert Review Amber;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149 Abnormality of extrapyramidal motor function;HP:0002071 32623594;36825042 False 2 0;100;0 2.10 True ENSG00000032444 ENSG00000032444 HGNC:16268 PTPA gene PTPA Expert Review Amber;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual disability, MONDO: 36073231, PTPA-related;Parkisonism Abnormality of extrapyramidal motor function;HP:0002071 36073231;37448355 False 2 0;100;0 2.10 True ENSG00000119383 ENSG00000119383 HGNC:9308 RAB32 gene RAB32 Expert Review Amber;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923 Abnormality of extrapyramidal motor function;HP:0002071 38614108;38858457 False 2 0;50;50 2.10 True Other ENSG00000118508 ENSG00000118508 HGNC:9772 UQCRC1 gene UQCRC1 Expert Review Amber;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, MIM# 619279 Abnormality of extrapyramidal motor function;HP:0002071 33141179;33248804 False 2 0;100;0 2.10 True ENSG00000010256 ENSG00000010256 HGNC:12585 ATXN1_CAG str ATXN1 Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar Ataxia type 1;Parkinsonism;OMIM 164400 Abnormality of extrapyramidal motor function;HP:0002071 " PMID: 24602359" False 3 100;0;0 2.10 True ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 FTDALS str C9orf72 Expert Review Green;Expert list Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Abnormality of extrapyramidal motor function;HP:0002071 25577942;21944779;21944778;31779815 False 3 100;0;0 2.10 True ENSG00000147894 ENSG00000147894 HGNC:28337 9 27573427 27573544 27573529 27573546 GGGGCC 25 60 FXTAS str FMR1 Expert Review Green;Literature Early-onset Parkinson disease 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) Fragile X tremor/ataxia syndrome MIM#300623 Abnormality of extrapyramidal motor function;HP:0002071 27340021;28176767;20301558;23765048;25227148;11445641 False 3 100;0;0 2.10 True ENSG00000102081 ENSG00000102081 HGNC:3775 X 146993569 146993628 147912051 147912110 CGG 44 55 HD str HTT Expert Review Green;Expert list Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Huntington disease MIM#143100 Abnormality of extrapyramidal motor function;HP:0002071 20301482;29325606 False 3 100;0;0 2.10 False ENSG00000197386 ENSG00000197386 HGNC:4851 4 3076604 3076666 3074877 3074939 CAG 26 40 NIID str NOTCH2NL Expert Review Green;Literature Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronal intranuclear inclusion disease MIM#603472;Oculopharyngodistal myopathy 3 MIM#619473;Tremor, hereditary essential, 6 MIM#618866 Abnormality of extrapyramidal motor function;HP:0002071 31178126;31332381;31819945;33887199;33943039;32250060;31332380;32852534;32989102;34333668 False 3 100;0;0 2.10 True ENSG00000213240 ENSG00000264343 HGNC:31862 1 145209324 145209344 149390803 149390829 GGC 40 60 XDP str TAF1 Expert Review Green;Expert list Early-onset Parkinson disease Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia-Parkinsonism, X-linked MIM#314250 Abnormality of extrapyramidal motor function;HP:0002071 17273961;29229810 False 3 100;0;0 2.10 True ENSG00000147133 ENSG00000147133 HGNC:11535 X 70672905 70672979 71453055 71453129 CCCTCT 13 30