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 Green Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 24, 615034; familial form of cranio-cervical dystonia False 3 0;0;0 0.55 False ENSG00000134343 ENSG00000134343 HGNC:14004 ATP13A2 gene ATP13A2 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb Syndrome;Parkinson disease 9, 606693 False 3 0;0;0 0.55 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP1A3 gene ATP1A3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rapid-Onset Dystonia-Parkinsonism False 3 0;0;0 0.55 False ENSG00000105409 ENSG00000105409 HGNC:801 C19orf12 gene C19orf12 Expert list;Expert Review Green Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia; mitochondrial membrane protein-associated neurodegeneration False 3 0;0;0 0.55 False ENSG00000131943 ENSG00000131943 HGNC:25443 DCTN1 gene DCTN1 Expert;Expert Review Green Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 0;0;0 0.55 False ENSG00000204843 ENSG00000204843 HGNC:2711 FBXO7 gene FBXO7 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;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 15, autosomal recessive, 260300;Parkinson Disease, Recessive False 3 0;0;0 0.55 True ENSG00000100225 ENSG00000100225 HGNC:13586 GCH1 gene GCH1 Expert list;Expert Review Green Complex Parkinsonism (includes pallido-pyramidal syndromes) 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) False 3 0;0;0 0.55 False ENSG00000131979 ENSG00000131979 HGNC:4193 LRRK2 gene LRRK2 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Complex Parkinsonism (includes pallido-pyramidal syndromes) 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 28395805;28395804;28395803;28395802 False 3 0;0;0 0.55 True Other - please provide details in the comments ENSG00000188906 ENSG00000188906 HGNC:18618 MAPT gene MAPT Eligibility statement prior genetic testing;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dementia, frontotemporal, with or without parkinsonism, 600274;Pick disease, 172700; Supranuclear palsy, progressive, 601104; Supranuclear palsy, progressive atypical, 260540; {Parkinson disease, susceptibility to}, 168600; Tauopathy and r;PARKINSON-DEMENTIA SYNDROME;clinical presentation suggestive of cortico-basal/PSP syndrome 28334843 False 3 0;0;0 0.55 False ENSG00000186868 ENSG00000186868 HGNC:6893 PANK2 gene PANK2 Expert;Expert Review Green Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Complex Disease;Dystonia;pantothenate kinase-associated neurodegeneration False 3 0;0;0 0.55 False ENSG00000125779 ENSG00000125779 HGNC:15894 PARK7 gene PARK7 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 7 autosomal recessive early-onset;Parkinson Disease, Recessive;Parkinson Disease 7, Autosomal Recessive Early-Onset False 3 0;0;0 0.55 True ENSG00000116288 ENSG00000116288 HGNC:16369 PINK1 gene PINK1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset, 605909;Parkinson Disease, Recessive;Parkinson Disease 6, Autosomal Recessive Early-Onset False 3 0;0;0 0.55 True ENSG00000158828 ENSG00000158828 HGNC:14581 PLA2G6 gene PLA2G6 Expert;Expert Review Green;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;Infantile neuroaxonal dystrophy 1, 256600; Neurodegeneration with brain iron accumulation 2B, 610217; Parkinson disease 14, 612953 False 3 0;0;0 0.55 False ENSG00000184381 ENSG00000184381 HGNC:9039 PRKN gene PRKN Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson Disease, Juvenile;Parkinson Disease 2, Autosomal Recessive Juvenile False 3 0;0;0 0.55 True ENSG00000185345 ENSG00000185345 HGNC:8607 SGCE gene SGCE Expert list;Expert Review Green Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 3 0;0;0 0.55 False ENSG00000127990 ENSG00000127990 HGNC:10808 SLC6A3 gene SLC6A3 Expert Review Green;Radboud University Medical Center, Nijmegen Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal {Nicotine dependence, protection against}, 188890;Parkinsonism -dystonia, infantile, 613135; {Nicotine dependence, protection against}, 188890; Parkinsonism-dystonia, infantile, 613135 False 3 0;0;0 0.55 False ENSG00000142319 ENSG00000142319 HGNC:11049 SNCA gene SNCA Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Complex Parkinsonism (includes pallido-pyramidal syndromes) 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;Parkinson Disease, Dominant;PARKINSON DISEASE 1, AUTOSOMAL DOMINANT;PARKINSON DISEASE 4, AUTOSOMAL DOMINANT;DEMENTIA, LEWY BODY;Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4) False 3 0;0;0 0.55 True ENSG00000145335 ENSG00000145335 HGNC:11138 SPR gene SPR Expert list;Expert Review Green Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dopa-Responsive Dystonia; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; paediatric form of dopa responsive dystonia http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 3 0;0;0 0.55 False ENSG00000116096 ENSG00000116096 HGNC:11257 TH gene TH Expert list;Expert Review Green Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Segawa syndrome, recessive, 605407; paediatric form of dopa responsive dystonia; Segawa syndrome http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 3 0;0;0 0.55 False ENSG00000180176 ENSG00000180176 HGNC:11782 THAP1 gene THAP1 Expert list;Expert Review Green Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia; Dystonia 6, torsion, 602629 http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 3 0;0;0 0.55 False ENSG00000131931 ENSG00000131931 HGNC:20856 TOR1A gene TOR1A Expert list;Expert Review Green Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100; Autosomal dominant or sporadic dystonia (DYT1) http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 3 0;0;0 0.55 False ENSG00000136827 ENSG00000136827 HGNC:3098 TUBB4A gene TUBB4A Expert list;Expert Review Green Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia; ?Dystonia 4, torsion, autosomal dominant, 128101; hereditary whispering dysphonia False 3 0;0;0 0.55 False ENSG00000104833 ENSG00000104833 HGNC:20774 VPS35 gene VPS35 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Complex Parkinsonism (includes pallido-pyramidal syndromes) Neurodegenerative disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson disease 17, 614203;Parkinson Disease, Dominant;PARKINSON DISEASE 17;PARK17 False 3 0;0;0 0.55 True ENSG00000069329 ENSG00000069329 HGNC:13487 WDR45 gene WDR45 Expert;Expert Review Green 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) Dystonia;beta-propeller protein-associated neurodegeneration False 3 0;0;0 0.55 False ENSG00000196998 ENSG00000196998 HGNC:28912