Parkinson Disease and Complex Parkinsonism (Version 1.128)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Complex Parkinsonism (includes pallido-pyramidal syndromes), Early onset and familial Parkinson's Disease
Panel types: Rare Disease 100K
Previous code: 58078e6e8f62030e233a8157

Description

This panel is NO LONGER ACTIVELY MAINTAINED.

Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up.

Please consider using an NHS Genomic Medicine Service (GMS) panel instead. The full list of GMS panels can be found here: https://nhsgms-panelapp.genomicsengland.co.uk/panels, with links back to PanelApp should you wish to leave a review on the panel.

-----

This panel was created by combining the Early onset and familial Parkinson's Disease (Version 0.51) gene panel and the Complex Parkinsonism (includes pallido-pyramidal syndromes) (Version 0.50) gene panel. Reviews from the panels were transferred accross. 

This gene panel is designed to cover the following disorders:
- Early onset and familial Parkinson's Disease
- Complex Parkinsonism (includes pallido-pyramidal syndromes)

See individual eligibility statements for these disorders, available here:https://www.genomicsengland.co.uk/information-for-gmc-staff/rare-disease-documents/

Panel Activity

19 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Huw Morris (UCL)

Group: GeCIP domain
Workplace: Research lab
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Wei Jia Zhang (UCL)

Group: GeCIP domain
Workplace: NHS clinical service
alisdair mcneill (Sheffield childrens hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Arianna Tucci (Genomics England Curator)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Alison Callaway (Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
David Collier (King's College London)

Group: Other biotech or pharmaceutical
Workplace: Research lab
Ida Ertmanska (Genomics England Curator)

Group: Other
Workplace: Other
Anjali Lloyd-Jani (Oxford University Hospitals NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab

81 Entities

81 reviewed, 45 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 81 Entitiess
Green List (high evidence)	ATN1_CAG STR	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM:125370 Tags STR
Green List (high evidence)	ATP13A2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Parkinson disease 9, 606693 Kufor-Rakeb Syndrome Tags
Green List (high evidence)	ATP1A3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Rapid-Onset Dystonia-Parkinsonism Dystonia-12 rapid-onset dystonia-parkinsonism alternating hemiplegia of childhood CAPOS syndrome Tags
Green List (high evidence)	ATXN1_CAG STR	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR
Green List (high evidence)	ATXN2_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Tags STR
Green List (high evidence)	ATXN3_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Machado-Joseph disease, OMIM:109150 Tags STR
Green List (high evidence)	C19orf12	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes ?Spastic paraplegia 43, autosomal recessive, OMIM:615043 Neurodegeneration with brain iron accumulation 4, OMIM: 614298 Tags
Green List (high evidence)	C9orf72_GGGGCC STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 Tags STR
Green List (high evidence)	CSF1R	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 Tags adult-onset
Green List (high evidence)	DCTN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green Phenotypes Perry syndrome Tags
Green List (high evidence)	DNAJC6	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Parkinson disease 19b, early-onset, OMIM:615528 Parkinson disease 19a juvenile-onset, OMIM:615528 juvenile onset Parkinson disease 19A, MONDO:0014231 Tags
Green List (high evidence)	FBXO7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Parkinson disease 15, autosomal recessive, 260300 Parkinson Disease, Recessive Early Onset Complex Disease parkinsonian-pyramidal syndrome Tags
Green List (high evidence)	FTL	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 3 movement disorder Tags
Green List (high evidence)	GBA	6 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes {Parkinson disease, late-onset, susceptibility to}, 168600 Tags new-gene-name treatable
Green List (high evidence)	GCH1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 Hyperphenylalaninemia, BH4-deficient, B, 233910 Dopa-Responsive Dystonia (DRD) Dopa-Responsive Dystonia (DRD) Tags
Green List (high evidence)	GRN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert Expert Review Green Phenotypes clinical presentation suggestive of cortico-basal/PSP syndrome frontotemporal lobar degeneration with TDP43 inclusions Complex parkinsonism Tags
Green List (high evidence)	HTT_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Huntington disease, OMIM:143100 Tags STR
Green List (high evidence)	JPH3_CTG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Huntington disease-like 2, OMIM:606438 Tags STR
Green List (high evidence)	LRRK2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Parkinson disease 8, 607060 Parkinson Disease, Dominant Parkinson Disease 8, Autosomal Dominant PARKINSON DISEASE 8, AUTOSOMAL DOMINANT LRRK2 G2019S mutation Autosomal dominant Parkinson's disease Tags curated-variant-list missense
Green List (high evidence)	LYST	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Parkinsonism albinism peripheral neuropathy Chediak-Higashi syndrome 214500 Tags
Green List (high evidence)	MAPT	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Dementia, frontotemporal, with or without parkinsonism, 600274 {Parkinson disease, susceptibility to}, 168600 Pick disease, 172700 Supranuclear palsy, progressive, 601104 Supranuclear palsy, progressive atypical, 260540 Tauopathy and r Pick disease, 172700 PARKINSON-DEMENTIA SYNDROME clinical presentation suggestive of cortico-basal/PSP syndrome Tags treatable
Green List (high evidence)	OPA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes 3-methylglutaconic aciduria, type III, 258501 Costeff syndrome Tags
Green List (high evidence)	PANK2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Exper Expert list Expert Review Green Phenotypes Early Onset Complex Disease Dystonia pantothenate kinase-associated neurodegeneration Dystonia Neurodegeneration with brain iron accumulation 1 234200 Tags
Green List (high evidence)	PARK7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Parkinson disease 7 autosomal recessive early-onset 606324 Tags
Green List (high evidence)	PDGFB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Basal ganglia calcification, idiopathic, 5, OMIM:615483 basal ganglia calcification, idiopathic, 5, MONDO:0014204 Tags
Green List (high evidence)	PINK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Parkinson disease 6, early onset, 605909 Parkinson Disease 6, Autosomal Recessive Early-Onset Tags
Green List (high evidence)	PLA2G6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Infantile neuroaxonal dystrophy 1, 256600 Neurodegeneration with brain iron accumulation 2B, 610217 Parkinson disease 14, 612953 Early Onset Complex Disease Tags
Green List (high evidence)	PPP2R2B_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags STR
Green List (high evidence)	PRKN	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Parkinson Disease, Juvenile Parkinson Disease 2, Autosomal Recessive Juvenile Tags
Green List (high evidence)	PRKRA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes Early Onset Complex Disease Early-Onset Generalized Dystonia-Parkinsonism Dystonia 16 early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa Tags
Green List (high evidence)	PTRHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, OMIM:620747 Tags
Green List (high evidence)	RAB39B	3 reviews 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 Expert Review Green Phenotypes Waisman syndrome, OMIM:311510 early-onset parkinsonism and intellectual disability Tags
Green List (high evidence)	SLC30A10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Hypermanganesemia with dystonia 1, OMIM:613280 Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease Tags treatable
Green List (high evidence)	SLC39A14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Hypermanganesemia with dystonia 2 617013 Tags
Green List (high evidence)	SLC6A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Parkinsonism-dystonia, infantile, 613135 Tags
Green List (high evidence)	SNCA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Parkinson disease 4, 605543 Dementia, Lewy body, 127750 Parkinson disease 1, 168601 Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4) Tags gene-duplication
Green List (high evidence)	SPG11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes Early Onset Complex Disease hereditary spastic paraparesis early onset parkinsonism, levo dopa responsve Complex parkinsonism Tags
Green List (high evidence)	SPR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 paediatric form of dopa responsive dystonia Tags treatable
Green List (high evidence)	SYNJ1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Parkinson disease 20, early-onset, 615530 Early Onset Complex Disease juvenile Parkinsonism Tags
Green List (high evidence)	TBP_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags STR
Green List (high evidence)	TH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Segawa syndrome, recessive, 605407 paediatric form of dopa responsive dystonia infantile parkinsonism Tags
Green List (high evidence)	TUBB4A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Complex parkinsonism Dystonia ?Dystonia 4, torsion, autosomal dominant, 128101 hereditary whispering dysphonia Dystonia hypomyelinating leukodystrophy 6 Tags
Green List (high evidence)	VPS13A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Choreoacanthocytosis 200150 Complex parkinsonism Tags
Green List (high evidence)	VPS35	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Parkinson disease 17, 614203 Parkinson Disease, Dominant PARKINSON DISEASE 17 PARK17 late onset parkinson disease Tags missense
Green List (high evidence)	WDR45	2 reviews 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 Expert list Expert Review Green Phenotypes Dystonia beta-propeller protein-associated neurodegeneration beta-propeller protein-associated neurodegeneration Tags
Amber List (moderate evidence)	ARSA	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Metachromatic leukodystrophy, OMIM:250100 metachromatic leukodystrophy, juvenile form, MONDO:0009591 Tags
Amber List (moderate evidence)	CHCHD2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Parkinson disease 22, autosomal dominant 616710 Tags
Amber List (moderate evidence)	COASY	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neurodegeneration with brain iron accumulation 6, OMIM:615643 neurodegeneration with brain iron accumulation 6, MONDO:0014290 Tags
Amber List (moderate evidence)	TAF1	2 reviews 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 Amber Radboud University Medical Center, Nijmegen Phenotypes Dystonia-Parkinsonism, X-linked, 314250 SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250 Tags sva
Red List (low evidence)	ANO3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Phenotypes Dystonia 24, 615034 familial form of cranio-cervical dystonia Tags
Red List (low evidence)	ATP6AP2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes ?Parkinsonism with spasticity, X-linked 300911 Mental retardation, X-linked, syndromic, Hedera type 300423 Tags watchlist
Red List (low evidence)	ATXN2	3 reviews 1 red	Other	Sources Expert Expert Review Red Phenotypes {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN3	3 reviews 1 red	Other	Sources Expert Expert Review Red Phenotypes Machado-Joseph disease, OMIM:109150 Susceptibility to Late-Onset Parkinson Disease Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	C9orf72	4 reviews 1 green 1 red	Other	Sources Eligibility statement prior genetic testing Expert Expert Review Red Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	EIF4G1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Parkinsons disease 18, 614251 Tags
Red List (low evidence)	GIGYF2	2 reviews 1 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Susceptibility to Parkinson disease 11, 607688 {Parkinson disease 11} Tags
Red List (low evidence)	GNAL	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Phenotypes Dystonia 25, 615073 adult-onset cranio-cervical dystonia Tags
Red List (low evidence)	HTRA2	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Parkinson disease 13, 610297 Parkinson Disease, Dominant Tags
Red List (low evidence)	HTT	4 reviews	Other	Sources Expert Expert Review Red Phenotypes Huntington disease, OMIM:143100 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	IPPK	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Red Phenotypes Early Onset Complex Disease Tags
Red List (low evidence)	JPH3	2 reviews 1 red	Other	Sources Expert list Phenotypes Huntington disease-like 2, OMIM:606438 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	NR4A2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Parkinson Disease, Dominant/Recessive (susceptibility to) Tags
Red List (low evidence)	SGCE	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert list Expert Review Red Phenotypes Myoclonus-Dystonia maternally imprinted Dystonia-11, myoclonic, 159900 Myoclonus dystonia syndrome Tags
Red List (low evidence)	SLC41A1	2 reviews 1 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Parkinson disease (Yan (2011) Int J Neurosci 121,632) Tags
Red List (low evidence)	SNCAIP	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Parkinson Disease, Dominant/Recessive Tags
Red List (low evidence)	TBP	3 reviews	Other	Sources Expert Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	THAP1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Phenotypes Dystonia Dystonia 6, torsion, 602629 DYT6 Tags
Red List (low evidence)	TOR1A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Phenotypes Dystonia-1, torsion, OMIM:128100 Dystonic disorder, MONDO:0003441 Tags
Red List (low evidence)	UCHL1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes {?Parkinson disease 5, susceptibility to}, OMIM:613643 Tags
No list	ATP7B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Wilson disease MIM#277900 Tags
No list	CLN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 3 MIM#204200 Tags
No list	CP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290 Tags
No list	DNAJC12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Tags
No list	DNAJC5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350 Tags
No list	EPHB4	3 reviews 1 red	Not set	Sources Expert Review Removed Tags curated_removed
No list	PDE8B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Striatal degeneration, autosomal dominant, MIM#609161 Tags
No list	PDGFRB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Basal ganglia calcification, idiopathic, 4, MIM# 615007 Tags
No list	SLC20A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Basal ganglia calcification, idiopathic, 1, MIM# 213600 Tags
No list	TWNK	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Tags
No list	VPS13C	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Parkinson disease 23, autosomal recessive, early onset MIM#616840 Tags
No list	XPR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Basal ganglia calcification, idiopathic, 6, MIM# 616413 Tags

Parkinson Disease and Complex Parkinsonism (Version 1.128)

19 reviewers

81 Entities

81 reviewed, 45 green

2 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

6 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags