Description
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/

10 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

57 genes

57 reviewed, 32 green

List Gene Reviews Mode of inheritance Details
57 genes
Green Green List (high evidence)
PRKN
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
Phenotypes
  • Parkinson Disease, Juvenile
  • Parkinson Disease 2, Autosomal Recessive Juvenile
Green Green List (high evidence)
ATP13A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease 9, 606693
  • Kufor-Rakeb Syndrome
Green 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
Green Green List (high evidence)
C19orf12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystonia
  • mitochondrial membrane protein-associated neurodegeneration
  • Neurodegeneration with brain iron accumulation 4
Green Green List (high evidence)
CSF1R
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • diffuse leukoencephalopathy with spheroids
  • dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy
Tags
  • adult-onset
Green Green List (high evidence)
DCTN1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Perry syndrome
Green 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 19, juvenile-onset, 615528
  • Parkinson disease 19a, juvenile-onset
  • Parkinson disease 19b, early-onset
Green Green List (high evidence)
FBXO7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease 15, autosomal recessive, 260300
  • Parkinson Disease, Recessive
  • Early Onset Complex Disease
  • parkinsonian-pyramidal syndrome
Green 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
Green Green List (high evidence)
GCH1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
  • Hyperphenylalaninemia, BH4-deficient, B, 233910
  • Dopa-Responsive Dystonia (DRD)
  • Dopa-Responsive Dystonia (DRD)
Green Green List (high evidence)
GRN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
Phenotypes
  • clinical presentation suggestive of cortico-basal/PSP syndrome
  • frontotemporal lobar degeneration with TDP43 inclusions
  • Complex parkinsonism
Green Green List (high evidence)
LRRK2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
  • Radboud University Medical Center, Nijmegen
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 Green List (high evidence)
MAPT
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Expert
  • Radboud University Medical Center, Nijmegen
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 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
Green Green List (high evidence)
PANK2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Exper
  • Expert list
Phenotypes
  • Early Onset Complex Disease
  • Dystonia
  • pantothenate kinase-associated neurodegeneration
  • Dystonia
  • Neurodegeneration with brain iron accumulation 1
  • 234200
Green Green List (high evidence)
PARK7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Parkinson disease 7 autosomal recessive early-onset
  • 606324
Green Green List (high evidence)
PINK1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Parkinson disease 6, early onset, 605909
  • Parkinson Disease 6, Autosomal Recessive Early-Onset
Green Green List (high evidence)
PLA2G6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • 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
Green Green List (high evidence)
PRKRA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Early Onset Complex Disease
  • Early-Onset Generalized Dystonia-Parkinsonism
  • Dystonia 16
  • early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa
Green 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 Review Green
  • Expert
Phenotypes
  • ?Waisman syndrome
  • early-onset parkinsonism and intellectual disability
Green Green List (high evidence)
SLC30A10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
  • Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease
  • hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia
Tags
  • treatable
Green Green List (high evidence)
SLC39A14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hypermanganesemia with dystonia 2 617013
Green 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
Green Green List (high evidence)
SNCA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
  • Radboud University Medical Center, Nijmegen
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 Green List (high evidence)
SPG11
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Early Onset Complex Disease
  • hereditary spastic paraparesis
  • early onset parkinsonism, levo dopa responsve
  • Complex parkinsonism
Green Green List (high evidence)
SPR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dopa-Responsive Dystonia
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
  • paediatric form of dopa responsive dystonia
Tags
  • treatable
Green Green List (high evidence)
SYNJ1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease 20, early-onset, 615530
  • Early Onset Complex Disease
  • juvenile Parkinsonism
Green Green List (high evidence)
TH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Segawa syndrome, recessive, 605407
  • paediatric form of dopa responsive dystonia
  • infantile parkinsonism
Green Green List (high evidence)
TUBB4A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Complex parkinsonism
  • Dystonia
  • ?Dystonia 4, torsion, autosomal dominant, 128101
  • hereditary whispering dysphonia
  • Dystonia
  • hypomyelinating leukodystrophy 6
Green Green List (high evidence)
VPS13A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Choreoacanthocytosis
  • 200150
  • Complex parkinsonism
Green Green List (high evidence)
VPS35
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease 17, 614203
  • Parkinson Disease, Dominant
  • PARKINSON DISEASE 17
  • PARK17
  • late onset parkinson disease
Tags
  • missense
Green 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
Amber Amber List (moderate evidence)
CHCHD2
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Parkinson disease 22, autosomal dominant
  • 616710
Amber Amber List (moderate evidence)
GBA
3 reviews
1 green 1 red
Not set
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Parkinson disease, late-onset, susceptibility to}, 168600
Amber Amber List (moderate evidence)
LYST
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Parkinsonism
  • albinism
  • peripheral neuropathy
  • Chediak-Higashi syndrome 214500
Amber 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 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
Red 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 Red List (low evidence)
ATXN2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • (CAGexpansion)
  • familial parkinsonism
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
ATXN3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • (CAGexpansion)
  • familial parkinsonism
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
C9orf72
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
  • Expert
Phenotypes
  • (Hexanucleotideexpansion)
  • clinical presentation suggestive of cortico-basal/PSP syndrome
  • complex parkinsonism
Tags
  • nucleotide-repeat-expansion
Red 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
Red 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}
Red 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
Red 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
Red Red List (low evidence)
HTT
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Huntingtons disease (HD)
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
IPPK
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Early Onset Complex Disease
Red Red List (low evidence)
JPH3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Huntington disease-like 2 606438
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red 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)
Red Red List (low evidence)
SGCE
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Myoclonus-Dystonia
  • maternally imprinted Dystonia-11, myoclonic, 159900
  • Myoclonus dystonia syndrome
Red 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)
Red Red List (low evidence)
SNCAIP
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Red
Phenotypes
  • Parkinson Disease, Dominant/Recessive
Red Red List (low evidence)
TBP
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia 17, 607136
  • {Parkinson disease, susceptibility to}, 168600
Tags
  • nucleotide-repeat-expansion
Red 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
Red Red List (low evidence)
TOR1A
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Early-Onset Primary Dystonia
  • Dystonia-1, torsion, 128100
  • Autosomal dominant or sporadic dystonia (DYT1)
  • primary torsion dystonia (DYT1), early-onset isolated dystonia
Red 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}
No list No list
EPHB4
3 reviews
1 red
Not set
Sources
  • Expert Review Removed

6 STRs

6 reviewed, 1 green

List STR Reviews Mode of inheritance Details
6 STRss
Green Green List (high evidence)
HTT_CAG
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Huntington disease 143100
Tags
  • STR
  • anticipation
Red Red List (low evidence)
ATXN2_CAG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 2 183090
Tags
  • STR
Red Red List (low evidence)
ATXN3_CAG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Machado-Joseph disease 109150
Tags
  • STR
Red Red List (low evidence)
C9orf72_GGGGCC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Tags
  • STR
Red Red List (low evidence)
JPH3_CTG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Huntington disease-like 2 606438
Tags
  • STR
Red Red List (low evidence)
TBP_CAG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 607136
Tags
  • STR

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