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 ANO3 gene ANO3 Expert list;Expert Review Red Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 24, 615034; familial form of cranio-cervical dystonia False 1 0;0;0 1.128 False ENSG00000134343 ENSG00000134343 HGNC:14004 ATP6AP2 gene ATP6AP2 Literature Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "?Parkinsonism with spasticity, X-linked 300911;Mental retardation, X-linked, syndromic, Hedera type 300423" 23595882 False 1 0;0;100 1.128 False ENSG00000182220 ENSG00000182220 HGNC:18305 ATXN2 gene ATXN2 Expert;Expert Review Red Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders Other {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 False 1 0;0;100 1.128 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000204842 ENSG00000204842 HGNC:10555 ATXN3 gene ATXN3 Expert;Expert Review Red Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders Other Machado-Joseph disease, OMIM:109150;Susceptibility to Late-Onset Parkinson Disease False 1 0;0;100 1.128 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000066427 ENSG00000066427 HGNC:7106 C9orf72 gene C9orf72 Eligibility statement prior genetic testing;Expert;Expert Review Red Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders Other Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 25326098;http://www.ncbi.nlm.nih.gov/pubmed/25326098 False 1 50;0;50 1.128 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000147894 ENSG00000147894 HGNC:28337 EIF4G1 gene EIF4G1 Expert Review Red;Radboud University Medical Center, Nijmegen Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinsons disease 18, 614251 False 1 0;0;100 1.128 False ENSG00000114867 ENSG00000114867 HGNC:3296 GIGYF2 gene GIGYF2 Expert Review Red;Radboud University Medical Center, Nijmegen Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders Susceptibility to Parkinson disease 11, 607688;{Parkinson disease 11} 18923002;19279319;19250854;19279319;19449032;18358451;18923002;19250854;19279319;19429085;19482505;20044296;20685231;19321232;26134514;201788319;20060621 False 1 0;0;100 1.128 False ENSG00000204120 ENSG00000204120 HGNC:11960 GNAL gene GNAL Expert list;Expert Review Red Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 25, 615073;adult-onset cranio-cervical dystonia http://www.ncbi.nlm.nih.gov/books/NBK1155/;27222887;27123488;27093447;26810727;26725140;26506956;26365774;25847575;25382112;23222958;23449625;23759320;24151159;24408567;24535567;24729450;25382112;27222887 False 1 0;0;100 1.128 False ENSG00000141404 ENSG00000141404 HGNC:4388 HTRA2 gene HTRA2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson disease 13, 610297;Parkinson Disease, Dominant 15961413;18364387;18401856;15961413;23462481 False 1 0;0;0 1.128 False ENSG00000115317 ENSG00000115317 HGNC:14348 HTT gene HTT Expert;Expert Review Red Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders Other Huntington disease, OMIM:143100 False 1 0;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 ENSG00000197386 ENSG00000197386 HGNC:4851 IPPK gene IPPK Expert;Expert Review Red Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Complex Disease False 1 0;0;100 1.128 False ENSG00000127080 ENSG00000127080 HGNC:14645 JPH3 gene JPH3 Expert list Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders Other Huntington disease-like 2, OMIM:606438 False 1 0;0;100 1.128 False Other - please provide details in the comments ENSG00000154118 ENSG00000154118 HGNC:14203 NR4A2 gene NR4A2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson Disease, Dominant/Recessive (susceptibility to) 12496759;12827450;15184637;15276233;15390059;27012974;25543265;24126627 False 1 0;0;0 1.128 False ENSG00000153234 ENSG00000153234 HGNC:7981 SGCE gene SGCE Expert list;Expert Review Red Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Myoclonus-Dystonia;maternally imprinted Dystonia-11, myoclonic, 159900;Myoclonus dystonia syndrome http://www.ncbi.nlm.nih.gov/books/NBK1155/;11528394;12325078 False 1 0;0;0 1.128 False ENSG00000127990 ENSG00000127990 HGNC:10808 SLC41A1 gene SLC41A1 Expert Review Red;Radboud University Medical Center, Nijmegen Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders Parkinson disease (Yan (2011) Int J Neurosci 121,632) 27612022 and 26308152 - reduced risk of PD association;24661466 - A novel heterozygous variant (R244H) reported in the SLC41A1 gene was identified in one early onset PD patient, which not present either in 479 PD patients or 525 normal controls with age onset >50;21812739 and 20683486 novel heterozygous variants identified in PD patients False 1 0;0;100 1.128 False ENSG00000133065 ENSG00000133065 HGNC:19429 SNCAIP gene SNCAIP Expert Review Red;Illumina TruGenome Clinical Sequencing Services Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson Disease, Dominant/Recessive False 1 0;0;100 1.128 False ENSG00000064692 ENSG00000064692 HGNC:11139 TBP gene TBP Expert;Expert Review Red;Radboud University Medical Center, Nijmegen Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders Other Spinocerebellar ataxia 17, OMIM:607136;{Parkinson disease, susceptibility to}, OMIM:168600 34906452;35493319 False 1 0;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 ENSG00000112592 ENSG00000112592 HGNC:11588 THAP1 gene THAP1 Expert list;Expert Review Red Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia;Dystonia 6, torsion, 602629;DYT6 http://www.ncbi.nlm.nih.gov/books/NBK1155/;21793105 False 1 0;0;0 1.128 False ENSG00000131931 ENSG00000131931 HGNC:20856 TOR1A gene TOR1A Expert list;Expert Review Red Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia-1, torsion, OMIM:128100;Dystonic disorder, MONDO:0003441 http://www.ncbi.nlm.nih.gov/books/NBK1155/;20301665 False 1 0;0;0 1.128 False ENSG00000136827 ENSG00000136827 HGNC:3098 UCHL1 gene UCHL1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Parkinson Disease and Complex Parkinsonism Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {?Parkinson disease 5, susceptibility to}, OMIM:613643 False 1 0;0;100 1.128 False ENSG00000154277 ENSG00000154277 HGNC:12513