Early-onset Parkinson disease (Version 2.3)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 130 Entitiess
Green Green List (high evidence)	ADAR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 6 neuroinflammatory disorder with cerebral calcification progressive loss of cognition spasticity dystonia parkinsonism OMIM 615010 Tags
Green Green List (high evidence)	ATP13A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes parkinsonism due to ATP13A2 deficiency MONDO:0017809 Tags
Green Green List (high evidence)	ATP1A3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes ATP1A3-associated neurological disorder MONDO:0700002 Tags
Green Green List (high evidence)	ATP6AP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Parkinsonism with spasticity, X-linked, MIM# 300911 Tags
Green Green List (high evidence)	ATP7B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Wilson disease MIM#277900 Tags
Green Green List (high evidence)	ATXN1_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar Ataxia type 1 Parkinsonism OMIM 164400 Tags
Green Green List (high evidence)	C19orf12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes neurodegeneration with brain iron accumulation 4 MONDO:0013674 Tags
Green Green List (high evidence)	C9orf3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia 31, MIM# 619565 Childhood/Adolescence onset generalised dystonia Dystonia parkinsonism Zech-Boesch Syndrome Tags new gene name
Green Green List (high evidence)	CHCHD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Parkinson disease 22, autosomal dominant MIM#616710 Tags
Green Green List (high evidence)	CLN3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 3 MIM#204200 Tags
Green Green List (high evidence)	CP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Aceruloplasminaemia, MIM#604290 Tags
Green Green List (high evidence)	CSF1R	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0800027 Tags
Green Green List (high evidence)	CYP27A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrotendinous xanthomatosis, MIM# 213700 Cerebrotendinous xanthomatosis, infantile-onset diarrhoea, juvenile-onset cataract, young adult-onset tendon xanthomas Epilepsy Parkinsonism Ataxia Peripheral neuropathy Tags
Green Green List (high evidence)	DCTN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Perry syndrome MONDO:0008201 Tags
Green Green List (high evidence)	DNAJC12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Tags
Green Green List (high evidence)	DNAJC5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350 Tags
Green Green List (high evidence)	DNAJC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes juvenile onset Parkinson disease 19A MONDO:0014231 Tags
Green Green List (high evidence)	EIF2AK2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877 Neurodevelopmental Syndrome Developmental delays Ataxia Parkinsonism White matter alterations Tags
Green Green List (high evidence)	FBXO7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes parkinsonian-pyramidal syndrome MONDO:0009830 Tags
Green Green List (high evidence)	FOXG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Rett syndrome, congenital variant, MIM# 613454 Developmental and Epileptic Encephalopathy Dystonia, Athetosis Parkinsonism Stereotypies Tags
Green Green List (high evidence)	FRRS1L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 37, MIM# 616981 Seizures Chorea Parkinsonism Developmental delay Tags
Green Green List (high evidence)	FTDALS STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags
Green Green List (high evidence)	FTL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FXTAS STR	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Fragile X tremor/ataxia syndrome MIM#300623 Tags
Green Green List (high evidence)	GBA	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Parkinson's disease, MONDO:0005180, GBA-related Tags
Green Green List (high evidence)	GCH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Tags
Green Green List (high evidence)	GLB1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes GM1-gangliosidosis, type III , MIM#230650 Parkinsonism Tags
Green Green List (high evidence)	GRN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM# 607485 Tags
Green Green List (high evidence)	HD STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Huntington disease MIM#143100 Tags STR
Green Green List (high evidence)	KIAA1161	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317 Primary familial brain calcification Atypical parkinsonism Supranuclear gaze palsy Tags new gene name
Green Green List (high evidence)	KMT2B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia 28, childhood-onset , MIM#617284 Tags
Green Green List (high evidence)	LRRK2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	LYST	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Chediak-Higashi syndrome MONDO:0008963 Tags
Green Green List (high evidence)	MAPT	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes late-onset Parkinson disease MONDO:0008199 Tags
Green Green List (high evidence)	MECP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055 Tags
Green Green List (high evidence)	NIID STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neuronal intranuclear inclusion disease MIM#603472 Oculopharyngodistal myopathy 3 MIM#619473 Tremor, hereditary essential, 6 MIM#618866 Tags
Green Green List (high evidence)	NPC1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Niemann-Pick disease, MIM# 257220 Parkinsonism Tags
Green Green List (high evidence)	NPC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Niemann Pick C2, OMIM 607625 Parkinsonism Tags
Green Green List (high evidence)	NR4A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911 Tags
Green Green List (high evidence)	NUS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 55, with seizures, MIM# 617831 Parkinsonism Developmental delay Intellectual disability Ataxia Myoclonus Tags
Green Green List (high evidence)	PANK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes pantothenate kinase-associated neurodegeneration MONDO:0009319 Tags
Green Green List (high evidence)	PARK7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes autosomal recessive early-onset Parkinson disease 7 MONDO:0011658 Tags
Green Green List (high evidence)	PDE8B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Striatal degeneration, autosomal dominant, MIM#609161 Tags
Green Green List (high evidence)	PDGFB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 5, MIM# 615483 Tags
Green Green List (high evidence)	PDGFRB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 4, MIM# 615007 Tags
Green Green List (high evidence)	PGK1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Phosphoglycerate kinase 1 deficiency, MIM# 300653 Haemolytic anaemia Rhabdomyolysis Myopathy Juvenile Parkinsonism OMIM 300653 Tags
Green Green List (high evidence)	PINK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Parkinson disease 6, early onset MIM#605909 Tags
Green Green List (high evidence)	PLA2G6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes autosomal recessive Parkinson disease 14 MONDO:0013060 Tags
Green Green List (high evidence)	POLG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes autosomal dominant progressive external ophthalmoplegia MONDO:0008003 Tags
Green Green List (high evidence)	POLR3A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694 POLR3A Leukoencephalopathy Parkinsonism Ocular and dental abnormality Hypogonadism Tags
Green Green List (high evidence)	PPP2R5D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Early onset Parkinsonism Mental retardation, autosomal dominant 35, MIM# 616355 Tags
Green Green List (high evidence)	PRKCG	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 14, MIM# 605361 Myoclonus Parkinsonism Tags
Green Green List (high evidence)	PRKN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes autosomal recessive juvenile Parkinson disease 2 MONDO:0010820 Tags
Green Green List (high evidence)	PRKRA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes dystonia 16 MONDO:0012789 Tags
Green Green List (high evidence)	PRNP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes inherited Creutzfeldt-Jakob disease MONDO:0007403 Gerstmann-Straussler-Scheinker syndrome MONDO:0007656 Tags
Green Green List (high evidence)	PSAP	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Parkinson disease 24, autosomal dominant, susceptibility to, MIM# 619491 Tags
Green Green List (high evidence)	PSEN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Alzheimer disease 3 MONDO:0011913 Tags
Green Green List (high evidence)	PSMF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related Tags
Green Green List (high evidence)	PTRHD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747 Tags
Green Green List (high evidence)	PTS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	QDPR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperphenylalaninemia, BH4-deficient, C, MIM#261630 Dehydropteridin reductase deficiency, Infantile-onset dystonia Parkinsonism Epilepsy Autonomic dysfunction Hyperphenylalaninemia Tags
Green Green List (high evidence)	RAB39B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Early-onset parkinsonism-intellectual disability syndrome MONDO:0010709 Tags
Green Green List (high evidence)	SCN1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dravet syndrome, MIM# 607208 Epilepsy, Paekinsonism Tags
Green Green List (high evidence)	SERAC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 Parkinsonism Tags
Green Green List (high evidence)	SLC18A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Parkinsonism-dystonia, infantile, 2 , MIM# 618049 Brain dopamine-serotonin transport disease, Childhood-onset parkinsonism Tags
Green Green List (high evidence)	SLC19A3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 Childhood onset Dystonia and Parkinsonism Tags
Green Green List (high evidence)	SLC20A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 1, MIM# 213600 Tags
Green Green List (high evidence)	SLC30A10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0013208 Tags
Green Green List (high evidence)	SLC39A14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Hypermanganesemia with dystonia 2 (MIM# 617013) Tags
Green Green List (high evidence)	SLC6A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Parkinsonism-dystonia, infantile, 1, MIM# 613135 Tags
Green Green List (high evidence)	SNCA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Dementia, Lewy body (MIM#127750) Parkinson disease 1 (MIM#168601) Parkinson disease 4 (MIM#605543) Tags SV/CNV
Green Green List (high evidence)	SOX6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Tolchin-Le Caignec syndrome, MIM# 618971 Developmental delay ID ASD ADHD Parkinsonism Syringomyelia Tags
Green Green List (high evidence)	SPG11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes hereditary spastic paraplegia 11 MONDO:0011445 Tags
Green Green List (high evidence)	SPG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 7, autosomal recessive, MIM# 607259 Ataxia Progressive external opthalmoplegia Parkinsonism Tags
Green Green List (high evidence)	SPR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994 Tags
Green Green List (high evidence)	STUB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar Ataxia 48, OMIM 618093 Parkinsonism Tags
Green Green List (high evidence)	STXBP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 4, MIM# 612164 Juvenile onset Parkinsonism Tags
Green Green List (high evidence)	SYNJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Parkinson disease 20, early-onset, MIM# 615530 Tags
Green Green List (high evidence)	TBC1D24	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 16, MIM# 615338 Intellectual disability Parkinsonism Seizures Psychosis Tags
Green Green List (high evidence)	TH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Tyrosine hydroxylase deficiency MONDO:0100064 Tags
Green Green List (high evidence)	TPP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 Parkinsonism Tags
Green Green List (high evidence)	TWNK	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Tags
Green Green List (high evidence)	UBTF	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 Parkinsonism Dystonia Chorea Brain atrophy Tags
Green Green List (high evidence)	VAC14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Striatonigral degeneration, childhood-onset, MIM# 617054 Dystonia Parkinsonism Tags
Green Green List (high evidence)	VCP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507 Tags
Green Green List (high evidence)	VPS13A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes chorea-acanthocytosis MONDO:0008695 Tags
Green Green List (high evidence)	VPS13C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Parkinson disease 23, autosomal recessive, early onset MIM#616840 Tags
Green Green List (high evidence)	VPS35	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Parkinson disease 17, MIM# 614203 Tags
Green Green List (high evidence)	WARS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Parkinsonism-dystonia 3, childhood-onset, MIM# 619738 Tags
Green Green List (high evidence)	WDR45	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes X-linked complex neurodevelopmental disorder MONDO:0100148 Tags
Green Green List (high evidence)	XDP STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Dystonia-Parkinsonism, X-linked MIM#314250 Tags founder
Green Green List (high evidence)	XPR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 6, MIM# 616413 Tags
Green Green List (high evidence)	ZFYVE26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 15, autosomal recessive, MIM# 270700 Spastic paraplegia and retinal degeneration Kjellin syndrome Parkinsonism Tags
Amber Amber List (moderate evidence)	AFG3L2	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 28, MIM# 610246 optic atrophy spastic ataxia L-dopa-responsive parkinsonism Tags
Amber Amber List (moderate evidence)	APP	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Alzheimer disease 1, familial, MIM# 104300 Tags
Amber Amber List (moderate evidence)	COASY	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 6, MIM# 615643 Tags
Amber Amber List (moderate evidence)	DDC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Aromatic L-amino acid decarboxylase deficiency, MIM# 608643 Infantile-onset parkinsonism & dystonia Bulbar dysfunction Oculogyric crisis Autonomic dysfunction Intellectual disability Tags
Amber Amber List (moderate evidence)	DHDDS	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Developmental delay and seizures with or without movement abnormalities, MIM# 617836 Myoclonic Epilepsy Parkinsonism Ataxia Intellectual disability Tags
Amber Amber List (moderate evidence)	EPM2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780 Progressive Myoclonic Epilepsy Parkinsonism Tags
Amber Amber List (moderate evidence)	KIF5A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 10, autosomal dominant MIM#604187 Tags
Amber Amber List (moderate evidence)	NHLRC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780 Lafora disease Progressive Myoclonic Epilepsy Parkinsonism Tags
Amber Amber List (moderate evidence)	PTPA	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability, MONDO: 36073231, PTPA-related Parkisonism Tags
Amber Amber List (moderate evidence)	UQCRC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Parkinsonism with polyneuropathy, MIM# 619279 Tags
Red Red List (low evidence)	ALPL	2 reviews 1 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypophosphatasia, adult, MIM# 146300 Osteomalacia Parkinsonism Tags
Red Red List (low evidence)	ANG	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Parkinson disease MONDO:0005180 Tags
Red Red List (low evidence)	DCAF17	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DNAJC13	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	FUS	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes tremor, hereditary essential, 4 MONDO:0013888 Tags
Red Red List (low evidence)	GIGYF2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes {Parkinson disease 11} , OMIM # 607688 Tags
Red Red List (low evidence)	HEXA	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes GM2 Gangliosidosis Tay-Sachs disease Parkinsonism OMIM 272800 Tags
Red Red List (low evidence)	OPA3	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PODXL	1 review	Unknown	Sources Literature Phenotypes juvenile-onset Parkinson disease Tags
Red Red List (low evidence)	PSEN2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Parkinsonism Alzheimer disease-4 MIM#606889 Tags
Red Red List (low evidence)	RAB32	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Parkinson disease MONDO:0005180 Tags
Red Red List (low evidence)	RIC3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Parkinson disease Tags
Red Red List (low evidence)	TMEM230	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Parkinson disease 21, MIM#616361 Tags
Red Red List (low evidence)	TUBB4A	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	WASL	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Parkinson's disease, MONDO:0005180, WASL-related Tags
No list No list	ATXN10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar Ataxia 10 Parkinsonism OMIM 603516 Tags STR
No list No list	ATXN2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar Ataxia 2 Parkinsonism Myoclonus OMIM 183090 Tags STR
No list No list	ATXN3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar 3 Machado Joseph disease Ataxia Parkinsonism OMIM 109150 Tags STR
No list No list	ATXN8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar 8 Parkinsonism OMIM 608768 Tags STR
No list No list	C9orf72	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags STR
No list No list	FMR1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Fragile X tremor/ataxia syndrome MIM#300623 Tags STR
No list No list	HTT	1 review 1 green	Unknown	Sources Expert Review Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags STR
No list No list	JPH3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Huntington Disease Like 2 (HDL2) Parkinsonism Severe Dementia OMIM 606438 Tags STR
No list No list	MT-ND6	1 review 1 green	MITOCHONDRIAL	Sources Literature Phenotypes Leber Optic Atrophy Parkinsonism OMIM 516006 Tags mtDNA
No list No list	PPP2R2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar ataxia 12 Parkinsonism OMIM 604326 Tags STR
No list No list	TAF1	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Dystonia-Parkinsonism, X-linked, MIM# 314250 Tags deep intronic founder STR
No list No list	TBP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar Ataxia 17 Parkinsonism Chorea Seizures Psychosis Dementia OMIM 607136 Tags STR

Early-onset Parkinson disease (Version 2.3)

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