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 ATXN2 gene ATXN2 Expert Early onset and familial Parkinson's Disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (CAGexpansion) False 1 0;0;0 0.56 False ENSG00000204842 ENSG00000204842 HGNC:10555 ATXN3 gene ATXN3 Expert Early onset and familial Parkinson's Disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (CAGexpansion) False 1 0;0;0 0.56 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 CHCHD2 gene CHCHD2 Literature Early onset and familial Parkinson's Disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015. False 1 0;0;100 0.56 False ENSG00000106153 ENSG00000106153 HGNC:21645 DNAJC6 gene DNAJC6 Radboud University Medical Center, Nijmegen Early onset and familial Parkinson's Disease Neurodegenerative disorders Neurology and neurodevelopmental disorders Parkinson disease 19, juvenile-onset, 615528 False 1 0;0;0 0.56 False ENSG00000116675 ENSG00000116675 HGNC:15469 EIF4G1 gene EIF4G1 Radboud University Medical Center, Nijmegen Early onset and familial Parkinson's Disease Neurodegenerative disorders Neurology and neurodevelopmental disorders Parkinsons disease 18, 614251 False 1 0;0;0 0.56 False ENSG00000114867 ENSG00000114867 HGNC:3296 GBA gene GBA Radboud University Medical Center, Nijmegen Early onset and familial Parkinson's Disease Neurodegenerative disorders Neurology and neurodevelopmental disorders {Parkinson disease, late-onset, susceptibility to}, 168600; {Lewy body dementia, susceptibility to}, 127750; Gaucher disease, type I, 230800; Gaucher disease, type II, 230900; Gaucher disease, type III, 231000; Gaucher disease, type IIIC, 231005; Gaucher disease, perinatal lethal, 608013;Gaucher disease, type I, 230800; {Parkinson disease, late-onset, susceptibility to}, 168600 False 1 0;0;0 0.56 False ENSG00000177628 ENSG00000177628 HGNC:4177 GIGYF2 gene GIGYF2 Radboud University Medical Center, Nijmegen Early onset and familial Parkinson's Disease Neurodegenerative disorders Neurology and neurodevelopmental disorders Parkinson disease 11, 607688 False 1 0;0;0 0.56 False ENSG00000204120 ENSG00000204120 HGNC:11960 NR4A2 gene NR4A2 Illumina TruGenome Clinical Sequencing Services Early onset and familial Parkinson's Disease Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson Disease, Dominant/Recessive False 1 0;0;0 0.56 False ENSG00000153234 ENSG00000153234 HGNC:7981 RAB39B gene RAB39B Expert Early onset and familial Parkinson's Disease 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) False 1 0;0;0 0.56 False ENSG00000155961 ENSG00000155961 HGNC:16499 SLC30A10 gene SLC30A10 Illumina TruGenome Clinical Sequencing Services Early onset and familial Parkinson's Disease Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease False 1 0;0;0 0.56 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC41A1 gene SLC41A1 Radboud University Medical Center, Nijmegen Early onset and familial Parkinson's Disease Neurodegenerative disorders Neurology and neurodevelopmental disorders Parkinson disease (Yan (2011) Int J Neurosci 121,632) False 1 0;0;0 0.56 False ENSG00000133065 ENSG00000133065 HGNC:19429 SNCAIP gene SNCAIP Illumina TruGenome Clinical Sequencing Services Early onset and familial Parkinson's Disease Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson Disease, Dominant/Recessive False 1 0;0;0 0.56 False ENSG00000064692 ENSG00000064692 HGNC:11139 SYNJ1 gene SYNJ1 Expert;Radboud University Medical Center, Nijmegen Early onset and familial Parkinson's Disease Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 20, early-onset, 615530 False 1 0;0;0 0.56 False ENSG00000159082 ENSG00000159082 HGNC:11503 TBP gene TBP Radboud University Medical Center, Nijmegen Early onset and familial Parkinson's Disease Neurodegenerative disorders Neurology and neurodevelopmental disorders Spinocerebellar ataxia 17, 607136; {Parkinson disease, susceptibility to}, 168600 False 1 0;0;0 0.56 False ENSG00000112592 ENSG00000112592 HGNC:11588 UCHL1 gene UCHL1 Illumina TruGenome Clinical Sequencing Services Early onset and familial Parkinson's Disease Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson Disease, Dominant False 1 0;0;0 0.56 False ENSG00000154277 ENSG00000154277 HGNC:12513