Early onset dystonia (Version 1.147)

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.

Panel Activity

22 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
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Rachel Jones (GSTT)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Chris Buxton (North Bristol NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Philip Dawson (Leadiant Biosciences)

Group: Other biotech or pharmaceutical
Workplace: Industry
Lothar Schlueter (PTC Therapeutics)

Group: Other
Workplace: Industry
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Eldar Dedic (Independent Clinical Genetics Consultant)

Group: Other
Workplace: Industry
Edoardo Monfrini (University of Milan)

Group: Other
Workplace: Research lab
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

117 Entities

77 reviewed, 60 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 117 Entitiess
Green Green List (high evidence)	ACTB	2 reviews 1 green	Not set	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dystonia, juvenile-onset OMIM:607371 developmental malformations-deafness-dystonia syndrome MONDO:0011823 Baraitser-Winter syndrome 1 OMIM:243310 Baraitser-Winter syndrome 1 MONDO:0009470 Tags
Green Green List (high evidence)	ADAR	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Aicardi-Goutieres syndrome 6, OMIM:615010 Dyschromatosis symmetrica hereditaria, OMIM:127400 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)	AFG3L2	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487 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)	ARX	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Developmental and epileptic encephalopathy 1, OMIM:308350 X-linked spasticity-intellectual disability-epilepsy syndromeMONDO:0017856 Partington syndrome, OMIM:309510 Partington syndrome, MONDO:0010654 Tags
Green Green List (high evidence)	ATM	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Ataxia-telangiectasia, OMIM:208900 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)	ATXN2_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 Tags STR
Green Green List (high evidence)	ATXN3_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Machado-Joseph disease, OMIM:109150 Tags STR
Green Green List (high evidence)	BCAP31	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Deafness, dystonia and cerebellar hypomyelination, 300475 DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS Tags
Green Green List (high evidence)	C19orf12	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Expert Review Green Phenotypes ?Spastic paraplegia 43, autosomal recessive, OMIM:615043 Neurodegeneration with brain iron accumulation 4, OMIM: 614298 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, OMIM:615643 neurodegeneration with brain iron accumulation 6, MONDO:0014290 Tags
Green Green List (high evidence)	CP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Dystonia Aceruloplasminemia Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 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 (Unverricht and Lundborg), OMIM:254800 Tags nucleotide-repeat-expansion
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)	DDC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643 Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 Floppy child Dystonia Hypotonia Developmental delay Oculogyric crisis Tags
Green Green List (high evidence)	DLAT	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Phenotypes episodic dystonia pyruvate dehydrogenase deficiency Pyruvate dehydrogenase E2 deficiency 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)	FOXG1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Rett Syndrome, congenital variant OMIM:613454 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 list Expert Review Green 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)	HPRT1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Lesch-Nyhan syndrome, OMIM:300322 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)	JPH3_CTG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Huntington disease-like 2, OMIM:606438 Tags STR
Green Green List (high evidence)	KMT2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Dystonia 28, childhood-onset, OMIM:617284 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)	NDUFA12	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 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)	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)	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, OMIM:614739 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 Hypermanganesemia with dystonia 1, OMIM:613280 Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 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)	SPATA5L1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 Tags new-gene-name
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	3 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	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 Dystonia-1, torsion, OMIM:128100 Arthrogryposis multiplex congenita 5, OMIM:618947 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 list Expert Review Green Phenotypes Galloway-Mowat syndrome 1, 251300 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
Amber Amber List (moderate evidence)	VPS11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Dystonia 32, OMIM:619637 dystonia 32, MONDO:0030486 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)	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)	CACNA1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Phenotypes Episodic ataxia, type 2, OMIM:108500 Tags
Red Red List (low evidence)	CYP27A1	1 review 1 green	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 list Expert Review Red Phenotypes Neuropathy, distal hereditary motor, type VIIB 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	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Phenotypes Combined oxidative phosphorylation deficiency 44, OMIM:618855 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	1 review 1 green	Not set	Sources Emory Genetics Laboratory Phenotypes Dystonia Tags
Red Red List (low evidence)	GCDH	1 review 1 green	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)	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 Aicardi-Goutieres syndrome 2, OMIM:61018 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
Red Red List (low evidence)	XK	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes McLeod syndrome with or without chronic granulomatous disease,OMIM:300842 Tags
No list No list	ATXN10_ATTCT STR	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Removed NHS GMS Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags curated_removed STR

Major version comments

17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.

Early onset dystonia (Version 1.147)

22 reviewers

117 Entities

77 reviewed, 60 green

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