Description
Inclusion criteria:
- Progressive motor syndrome with parkinsonism (bradykinesia with one of tremor, gait disorder, stiffness)
- Additional features may include spasticity, gaze palsy, early dementia, early bulbar failure, dyspraxia, ataxia, postural hypotension, cortical sensory loss, brain iron accumulation on MRI brain
- Age at onset ≤45 years or later onset with family history of similar condition in other family members

Exclusion criteria:
- Underlying cause not identified, e.g. structural brain lesion, Wilson disease

Prior Genetic Testing:
- Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype.
- Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND
- Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype AND
- The following specific gene tests are advised as a means of limiting the re- discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests:
- C9ORF72, GRN, MAPT in cases with a clinical presentation suggestive of
cortico-basal/PSP syndrome

These requirements will be kept under continual review during the main programme and may be subject to change

4 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • alisdair mcneill (Sheffield childrens hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

48 genes

33 reviewed, 24 green

List Gene Reviews Mode of inheritance Details
48 genes
Green Green List (high evidence)
PRKN
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Parkinson Disease, Juvenile
  • Parkinson Disease 2, Autosomal Recessive Juvenile
Green Green List (high evidence)
ANO3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystonia 24, 615034
  • familial form of cranio-cervical dystonia
Green Green List (high evidence)
ATP13A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Kufor-Rakeb Syndrome
  • Parkinson disease 9, 606693
Green Green List (high evidence)
ATP1A3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Rapid-Onset Dystonia-Parkinsonism
Green Green List (high evidence)
C19orf12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystonia
  • mitochondrial membrane protein-associated neurodegeneration
Green Green List (high evidence)
DCTN1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert
Green Green List (high evidence)
FBXO7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Expert Review Green
Phenotypes
  • Early Onset Complex Disease
  • Parkinson disease 15, autosomal recessive, 260300
  • Parkinson Disease, Recessive
Green Green List (high evidence)
GCH1
1 review
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)
Green Green List (high evidence)
LRRK2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Parkinson disease 8, 607060
  • Parkinson Disease, Dominant
  • Parkinson Disease 8, Autosomal Dominant
  • PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
Green Green List (high evidence)
MAPT
1 review
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
  • 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
Tags
  • treatable
Green Green List (high evidence)
PANK2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Early Onset Complex Disease
  • Dystonia
  • pantothenate kinase-associated neurodegeneration
Green Green List (high evidence)
PARK7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Parkinson disease 7 autosomal recessive early-onset
  • Parkinson Disease, Recessive
  • Parkinson Disease 7, Autosomal Recessive Early-Onset
Green Green List (high evidence)
PINK1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease 6, early onset, 605909
  • Parkinson Disease, Recessive
  • Parkinson Disease 6, Autosomal Recessive Early-Onset
Green Green List (high evidence)
PLA2G6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Early Onset Complex Disease
  • Infantile neuroaxonal dystrophy 1, 256600
  • Neurodegeneration with brain iron accumulation 2B, 610217
  • Parkinson disease 14, 612953
Green Green List (high evidence)
SGCE
1 review
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • http://www.ncbi.nlm.nih.gov/books/NBK1155/
Green Green List (high evidence)
SLC6A3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Nicotine dependence, protection against}, 188890
  • Parkinsonism -dystonia, infantile, 613135
  • {Nicotine dependence, protection against}, 188890
  • Parkinsonism-dystonia, infantile, 613135
Green Green List (high evidence)
SNCA
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • 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)
Green Green List (high evidence)
SPR
1 review
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
Green Green List (high evidence)
TH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Segawa syndrome, recessive, 605407
  • paediatric form of dopa responsive dystonia
  • Segawa syndrome
Green Green List (high evidence)
THAP1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystonia
  • Dystonia 6, torsion, 602629
Green Green List (high evidence)
TOR1A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Early-Onset Primary Dystonia
  • Dystonia-1, torsion, 128100
  • Autosomal dominant or sporadic dystonia (DYT1)
Green Green List (high evidence)
TUBB4A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystonia
  • ?Dystonia 4, torsion, autosomal dominant, 128101
  • hereditary whispering dysphonia
Green Green List (high evidence)
VPS35
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease 17, 614203
  • Parkinson Disease, Dominant
  • PARKINSON DISEASE 17
  • PARK17
Green Green List (high evidence)
WDR45
1 review
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
  • Dystonia
  • beta-propeller protein-associated neurodegeneration
Amber Amber List (moderate evidence)
GNAL
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Dystonia 25, 615073
Amber Amber List (moderate evidence)
HTRA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease 13, 610297
  • Parkinson Disease, Dominant
Amber Amber List (moderate evidence)
TAF1
1 review
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
Red Red List (low evidence)
C9orf72
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Eligibility statement prior genetic testing
Phenotypes
  • (Hexanucleotideexpansion)
  • clinical presentation suggestive of cortico-basal/PSP syndrome
  • complex parkinsonism
Red Red List (low evidence)
CSF1R
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
Red Red List (low evidence)
DNAJC6
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease 19, juvenile-onset, 615528
Red Red List (low evidence)
EIF4G1
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinsons disease 18, 614251
Red Red List (low evidence)
FTL
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
Red Red List (low evidence)
GBA
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gaucher disease, type I, 230800
  • Gaucher disease, type II, 230900
  • Gaucher disease, type III, 231000
  • Gaucher disease, type IIIC, 231005
  • Gaucher disease, perinatal lethal, 608013
  • {Parkinson disease, late-onset, susceptibility to}, 168600
  • {Lewy body dementia, susceptibility to}, 127750
Red Red List (low evidence)
GIGYF2
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease 11, 607688
Red Red List (low evidence)
GRN
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert
Phenotypes
  • clinical presentation suggestive of cortico-basal/PSP syndrome
Red Red List (low evidence)
HTT
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red Red List (low evidence)
IPPK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
Phenotypes
  • Early Onset Complex Disease
Red Red List (low evidence)
NR4A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Parkinson Disease, Dominant/Recessive
Red Red List (low evidence)
PRKRA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
Phenotypes
  • Early Onset Complex Disease
Red Red List (low evidence)
RAB39B
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert
Red Red List (low evidence)
SLC30A10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease
  • Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
Red Red List (low evidence)
SLC41A1
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease (Yan (2011) Int J Neurosci 121,632)
Red Red List (low evidence)
SNCAIP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Parkinson Disease, Dominant/Recessive
Red Red List (low evidence)
SPG11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
Phenotypes
  • Early Onset Complex Disease
Red Red List (low evidence)
SYNJ1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Early Onset Complex Disease
  • Parkinson disease 20, early-onset, 615530
Red Red List (low evidence)
TBP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Spinocerebellar ataxia 17, 607136
  • {Parkinson disease, susceptibility to}, 168600
Red Red List (low evidence)
UCHL1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Parkinson Disease, Dominant
Red Red List (low evidence)
VPS13A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • 200150

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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