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 C9orf72 gene C9orf72 Eligibility statement prior genetic testing;Expert Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (Hexanucleotideexpansion);clinical presentation suggestive of cortico-basal/PSP syndrome;complex parkinsonism 25326098 False 1 100;0;0 0.55 False Other - please provide details in the comments ENSG00000147894 ENSG00000147894 HGNC:28337 CSF1R gene CSF1R Expert Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;0 0.55 False ENSG00000182578 ENSG00000182578 HGNC:2433 DNAJC6 gene DNAJC6 Radboud University Medical Center, Nijmegen Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders Parkinson disease 19, juvenile-onset, 615528 False 1 0;0;0 0.55 False ENSG00000116675 ENSG00000116675 HGNC:15469 EIF4G1 gene EIF4G1 Radboud University Medical Center, Nijmegen Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders Parkinsons disease 18, 614251 False 1 0;0;0 0.55 False ENSG00000114867 ENSG00000114867 HGNC:3296 FTL gene FTL Expert Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 100;0;0 0.55 False ENSG00000087086 ENSG00000087086 HGNC:3999 GBA gene GBA Radboud University Medical Center, Nijmegen Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders 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; {Parkinson disease, late-onset, susceptibility to}, 168600; {Lewy body dementia, susceptibility to}, 127750 False 1 0;0;0 0.55 False ENSG00000177628 ENSG00000177628 HGNC:4177 GIGYF2 gene GIGYF2 Radboud University Medical Center, Nijmegen Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders Parkinson disease 11, 607688 False 1 0;0;0 0.55 False ENSG00000204120 ENSG00000204120 HGNC:11960 GRN gene GRN Eligibility statement prior genetic testing;Expert Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown clinical presentation suggestive of cortico-basal/PSP syndrome False 1 0;0;0 0.55 False ENSG00000030582 ENSG00000030582 HGNC:4601 HTT gene HTT Expert Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;0 0.55 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 Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Complex Disease False 1 0;0;0 0.55 False ENSG00000127080 ENSG00000127080 HGNC:14645 NR4A2 gene NR4A2 Illumina TruGenome Clinical Sequencing Services Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson Disease, Dominant/Recessive False 1 0;0;0 0.55 False ENSG00000153234 ENSG00000153234 HGNC:7981 PRKRA gene PRKRA Expert Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Complex Disease False 1 0;0;0 0.55 False ENSG00000180228 ENSG00000180228 HGNC:9438 RAB39B gene RAB39B Expert Complex Parkinsonism (includes pallido-pyramidal syndromes) 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 0.55 False ENSG00000155961 ENSG00000155961 HGNC:16499 SLC30A10 gene SLC30A10 Illumina TruGenome Clinical Sequencing Services Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease;Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease False 1 0;0;0 0.55 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC41A1 gene SLC41A1 Radboud University Medical Center, Nijmegen Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders Parkinson disease (Yan (2011) Int J Neurosci 121,632) False 1 0;0;0 0.55 False ENSG00000133065 ENSG00000133065 HGNC:19429 SNCAIP gene SNCAIP Illumina TruGenome Clinical Sequencing Services Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson Disease, Dominant/Recessive False 1 0;0;0 0.55 False ENSG00000064692 ENSG00000064692 HGNC:11139 SPG11 gene SPG11 Expert Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Complex Disease False 1 0;0;0 0.55 False ENSG00000104133 ENSG00000104133 HGNC:11226 SYNJ1 gene SYNJ1 Expert;Radboud University Medical Center, Nijmegen Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Complex Disease;Parkinson disease 20, early-onset, 615530 False 1 0;0;0 0.55 False ENSG00000159082 ENSG00000159082 HGNC:11503 TBP gene TBP Expert;Radboud University Medical Center, Nijmegen Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 17, 607136; {Parkinson disease, susceptibility to}, 168600 False 1 0;0;0 0.55 False ENSG00000112592 ENSG00000112592 HGNC:11588 UCHL1 gene UCHL1 Illumina TruGenome Clinical Sequencing Services Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson Disease, Dominant False 1 0;0;0 0.55 False ENSG00000154277 ENSG00000154277 HGNC:12513 VPS13A gene VPS13A Expert list Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 200150 11381253 False 1 0;0;0 0.55 False ENSG00000197969 ENSG00000197969 HGNC:1908