Description
Early onset dystonia inclusion criteria (29483)
- Dystonia affecting any body part, usually spreading to involve multiple body regions (e.g. multifocal, segmental, generalised)
- Age at onset <31 years or later onset with family history of early onset dystonia
- May be paroxysmal/episodic dystonia
- May be associated with myoclonus as in myoclonic dystonia

This disease category includes dopa responsive dystonia.

Early onset dystonia exclusion criteria (29483)
- Underlying cause for clinical syndrome identified, e.g. cerebral palsy, dopa-responsive dystonia, structural brain lesion, Wilson disease, psychogenic dystonia

Prior genetic testing guidance (29483)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Early onset dystonia prior genetic testing genes (29483)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
 - TOR1A

Closing statement (29483)
These requirements will be kept under continual review during the main programme and may be subject to change.

12 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

  • emma baple (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Cristina Dias (The Francis Crick Institute)

    Group: NHS Genomic Medicine Centre
    Workplace: Other

  • 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

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

110 Entities

59 reviewed, 47 green

List Entity Reviews Mode of inheritance Details
110 Entitiess
Green Green List (high evidence)
PRKN
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Dystonia
  • juvenile parkinsonism/dystonia
  • Parkinson disease, juvenile, type 2
Tags
Green Green List (high evidence)
ADAR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 6, 615010
  • dystonia
Tags
Green Green List (high evidence)
ADCY5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Dyskinesia, familial, with facial myokymia, 606703
  • dystonia
Tags
Green Green List (high evidence)
ANO3
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia 24, 615034
  • familial form of cranio-cervical dystonia
Tags
Green Green List (high evidence)
APTX
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Dystonia
Tags
Green Green List (high evidence)
ATM
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Dystonia
  • Ataxia telangiectasia
Tags
Green Green List (high evidence)
ATP13A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Dystonia
  • Parkinson disease
  • Kufor-Rakeb syndrome
Tags
Green Green List (high evidence)
ATP1A3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Rapid-Onset Dystonia-Parkinsonism
  • Dystonia-12, 128235
Tags
Green Green List (high evidence)
ATP7B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Dystonia
  • Wilson Disease
Tags
  • treatable
Green Green List (high evidence)
C19orf12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
Phenotypes
  • Dystonia
  • mitochondrial membrane protein-associated neurodegeneration
  • neurodegeneration with brain iron accumulation-4
Tags
Green Green List (high evidence)
CHMP2B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Dystonia
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • familial frontotemporal lobar degeneration (ALS17)
Tags
Green Green List (high evidence)
COASY
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Neurodegeneration with brain iron accumulation 6
  • COASY protein-associated neurodegeneration
Tags
Green Green List (high evidence)
CP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Dystonia
  • Aceruloplasminemia
Tags
Green Green List (high evidence)
CSTB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 1A, 254800
  • microcephaly and severe dyskinesia (26843564)
Tags
Green Green List (high evidence)
DCAF17
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Dystonia
  • Woodhouse-Sakati syndrome
Tags
Green Green List (high evidence)
FA2H
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Dystonia
  • fatty acid hydroxylase-associated neurodegeneration
Tags
Green Green List (high evidence)
FBXO7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Dystonia
  • juvenile parkinsonism
Tags
Green Green List (high evidence)
FTL
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Neurodegeneration with brain iron accumulation 3
Tags
Green Green List (high evidence)
GCH1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
  • Hyperphenylalaninemia, BH4-deficient, B, 233910
  • Dopa-Responsive Dystonia (DRD)
Tags
Green Green List (high evidence)
GNAO1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder with involuntary movements, 617493
Tags
  • mosaicism
Green Green List (high evidence)
HPCA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystonia 2, torsion, autosomal recessive, 224500
  • childhood-onset generalized dystonia
  • adolescence-onset segmental dystonia
  • generalized dystonia with additional neurological features
Tags
Green Green List (high evidence)
HTRA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-methylglutaconic aciduria, type VIII 617248
Tags
Green Green List (high evidence)
KMT2B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • early-onset dystonia
Tags
  • treatable
Green Green List (high evidence)
MECR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Tags
Green Green List (high evidence)
NKX6-2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Tags
Green Green List (high evidence)
PANK2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Dystonia
  • pantothenate kinase-associated neurodegeneration
Tags
Green Green List (high evidence)
PINK1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Dystonia
Tags
Green Green List (high evidence)
PLA2G6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • PLA2G6-associated neurodegeneration
Tags
Green Green List (high evidence)
PNKD
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Familial Paroxysmal Nonkinesigenic Dyskinesia
  • Paroxysmal nonkinesigenic dyskinesia, 118800
Tags
Green Green List (high evidence)
PRKRA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia
  • Dystonia 16, 612067
  • early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa
Tags
Green Green List (high evidence)
PRRT2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Episodic kinesigenic dyskinesia 1, 128200
  • Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions
Tags
Green Green List (high evidence)
SERAC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
  • MEGDEL syndrome
  • 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome
  • MEGDHEL syndrome
  • Dystonia
Tags
Green Green List (high evidence)
SGCE
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Myoclonus-Dystonia
  • maternally imprinted Dystonia-11, myoclonic, 159900
  • Myoclonus dystonia syndrome
Tags
Green Green List (high evidence)
SLC2A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Dystonia
  • GLUT1 deficiency syndrome 1, 606777
  • GLUT1 deficiency syndrome 2, childhood onset
  • GLUT1 deficiency syndrome 1, infantile onset, severe
  • GLUT1 deficiency syndrome 1
  • GLUT1 deficiency syndrome 2
Tags
Green Green List (high evidence)
SLC30A10
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280
Tags
  • treatable
Green Green List (high evidence)
SLC6A3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Nicotine dependence, protection against}, 188890
  • Parkinsonism-dystonia, infantile, 613135
Tags
Green Green List (high evidence)
SPR
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • juvenile Parkinsonism
  • Parkinson disease 20, early-onset
Tags
Green Green List (high evidence)
TH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Segawa syndrome, recessive, 605407
  • paediatric form of dopa responsive dystonia
  • Segawa syndrome
  • DOPA-responsive dystonia
Tags
  • treatable
Green Green List (high evidence)
THAP1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia
  • Dystonia 6, torsion, 602629
Tags
Green Green List (high evidence)
TOR1A
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Early-Onset Primary Dystonia
  • Dystonia-1, torsion, 128100
  • Autosomal dominant or sporadic dystonia (DYT1)
Tags
Green Green List (high evidence)
TUBB4A
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
Phenotypes
  • Dystonia
  • ?Dystonia 4, torsion, autosomal dominant, 128101
  • hereditary whispering dysphonia
Tags
Green Green List (high evidence)
VAC14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Striatonigral degeneration, childhood-onset 617054
Tags
Green Green List (high evidence)
VPS13A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • complex parkinsonism
Tags
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
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Dystonia
  • beta-propeller protein-associated neurodegeneration
Tags
Green Green List (high evidence)
WDR73
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Galloway Mowat Syndrome
Tags
Green Green List (high evidence)
YY1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Gabriele-de Vries syndrome 617557
Tags
Amber Amber List (moderate evidence)
CIZ1
2 reviews
Not set
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia 23, 614860
Tags
Amber Amber List (moderate evidence)
GNAL
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia 25, 615073
Tags
  • watchlist
Amber Amber List (moderate evidence)
TAF1
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
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia-Parkinsonism, X-linked, 314250
  • (NB complex mutation)
Tags
Red Red List (low evidence)
ACTB
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
Tags
Red Red List (low evidence)
AFG3L2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
AP1S2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
ARSA
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
ARX
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
ATP1A2
1 review
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
  • migraine
Tags
Red Red List (low evidence)
AUH
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
BCAP31
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, dystonia and cerebellar hypomyelination, 300475
Tags
Red Red List (low evidence)
CACNA1A
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
CYP27A1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
DCTN1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Neuropathy, distal hereditary motor, type VIIB
Tags
Red Red List (low evidence)
DDC
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
DLAT
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
DRD2
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia, myoclonic, 159900
Tags
Red Red List (low evidence)
DRD5
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Blepharospasm, primary benign}, 606798
Tags
Red Red List (low evidence)
EARS2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
ERCC6
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
FASTKD2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
FOXG1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
FOXRED1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
GAMT
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
GCDH
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
HPRT1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
KCNQ2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
L2HGDH
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
MAT1A
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
MCOLN1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
MMADHC
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
MPV17
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
MR1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • Dystonia
  • Paroxysmal/Episodic dystonia
Tags
Red Red List (low evidence)
MT-ND6
0 reviews
MITOCHONDRIAL
Sources
  • UKGTN
Phenotypes
  • Leber Optic Atrophy And Dystonia
Tags
Red Red List (low evidence)
NDUFA12
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Leigh syndrome due to mitochondrial complex 1 deficiency 256000
Tags
Red Red List (low evidence)
NPC2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
PARK7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Parkinson disease 7, autosomal recessive early-onset
Tags
Red Red List (low evidence)
PCDH12
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • intellectual disability
  • microcephaly
  • epilepsy
  • perithalamic hyperechogenicity
  • periventricular hyperechogenicity
  • midbrain abnormalities
  • hypothalamic abnormalities
Tags
  • founder-effect
Red Red List (low evidence)
PDGFRB
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
PDHX
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
PLP1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
PNPT1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
PSEN1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
PTEN
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
PTS
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
QDPR
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
RNASEH2A
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
RNASEH2B
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
RNASEH2C
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SAMHD1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SCP2
1 review
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy, 613724
Tags
Red Red List (low evidence)
SDHAF1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SLC19A3
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SLC20A2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SLC39A14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Hypermanganesemia with dystonia 2 617013
Tags
Red Red List (low evidence)
SLC46A1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SUCLA2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
SUOX
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
TIMM8A
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Deafness-Dystonia-Optic Neuronopathy Syndrome
Tags
Red Red List (low evidence)
TPK1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
TREM2
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
TREX1
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags
Red Red List (low evidence)
VPS37A
0 reviews
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Tags

Major version comments

Downloads

Download lists

Download Version