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.

11 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

109 genes

58 reviewed, 46 green

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

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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