Dystonia - childhood onset (Version 1.14)

This Panel is marked as Internal

Description

Internal no longer required as part of super panel

This panel is a component of super panel 'Movement disorders - childhood onset'; it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel has been initially created as a merge of genomic entities from the following
4 panels:
Early onset dystonia v1.76
Brain channelopathy v1.46
Structural basal ganglia disorders v1.10
Neurotransmitter disorders v1.3

Panel Activity

7 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Ivone Leong (Genomics England Curator)

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

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

Group: Other
Workplace: Other

184 Entities

11 reviewed, 121 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 184 Entitiess
Green Green List (high evidence)	ADAR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes dystonia Aicardi-Goutieres syndrome 6, 615010 Tags
Green Green List (high evidence)	ADCY5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes dystonia Familial dyskinesia 606703 Dyskinesia, familial, with facial myokymia, 606703 Tags
Green Green List (high evidence)	ANO3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes familial form of cranio-cervical dystonia Dystonia 24, 615034 Tags
Green Green List (high evidence)	AP1S2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Mental retardation, X-linked syndromic 5 304340 Dystonia Tags
Green Green List (high evidence)	APTX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dystonia Tags
Green Green List (high evidence)	ATM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dystonia Ataxia telangiectasia Tags
Green Green List (high evidence)	ATN1_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Dentatorubro-pallidoluysian atrophy 125370 Tags STR
Green Green List (high evidence)	ATP13A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Parkinson disease Kufor-Rakeb syndrome 606693 Dystonia Tags
Green Green List (high evidence)	ATP1A2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes familial basilar migraine 602481 familial hemiplegic migraine type 2, 602481 migraine alternating hemiplegia of childhood 104290 Dystonia Tags treatable
Green Green List (high evidence)	ATP1A3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Dystonia-12, 128235 DYSTONIA 12, 128235 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820 Rapid-Onset Dystonia-Parkinsonism Tags treatable
Green Green List (high evidence)	ATP7B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Wilson disease 277900 Dystonia Tags treatable
Green Green List (high evidence)	ATXN2_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 2 183090 Tags STR
Green Green List (high evidence)	ATXN3_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Machado-Joseph disease 109150 Tags STR
Green Green List (high evidence)	BCAP31	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Deafness, dystonia and cerebellar hypomyelination, 300475 DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS Tags
Green Green List (high evidence)	BCS1L	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bjornstad syndrome, 262000 Leigh syndrome, 256000 Mitochondrial complex III deficiency, nuclear type 1, 124000 Tags
Green Green List (high evidence)	C19orf12	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes neurodegeneration with brain iron accumulation-4 mitochondrial membrane protein-associated neurodegeneration Dystonia Tags
Green Green List (high evidence)	CACNA1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes episodic ataxia type 2 (EA2), 108500 Dystonia familial hemiplegic migraine type 1, 141500 Tags treatable
Green Green List (high evidence)	CACNA1A_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 6 183086 Tags STR
Green Green List (high evidence)	CACNB4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 EPISODIC ATAXIA, TYPE 5 Tags treatable
Green Green List (high evidence)	CHMP2B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes familial frontotemporal lobar degeneration (ALS17) Dystonia Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Tags
Green Green List (high evidence)	COASY	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COASY protein-associated neurodegeneration Neurodegeneration with brain iron accumulation 6 615643 Tags
Green Green List (high evidence)	COX10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leigh syndrome due to mitochondrial COX4 deficiency, 256000 Mitochondrial complex IV deficiency, 220110 Tags
Green Green List (high evidence)	COX15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 Tags
Green Green List (high evidence)	CP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebellar ataxia 604290 Aceruloplasminemia [Hypoceruloplasminemia, hereditary] 604290 Dystonia Hemosiderosis, systemic, due to aceruloplasminemia 604290 Tags
Green Green List (high evidence)	CSTB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800 Unverricht-Lundborg syndrome MONDO:0009698 Tags
Green Green List (high evidence)	CSTB_CCCCGCCCCGCG STR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 Tags STR
Green Green List (high evidence)	DBH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dopamine beta-hydroxylase deficiency, 223360 Tags treatable
Green Green List (high evidence)	DCAF17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Woodhouse-Sakati syndrome Dystonia Tags
Green Green List (high evidence)	DDC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 Dystonia Tags
Green Green List (high evidence)	DHFR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 Dihydrofolate reductase deficiency Tags treatable
Green Green List (high evidence)	DLAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dystonia Pyruvate dehydrogenase E2 deficiency 245348 Tags
Green Green List (high evidence)	DNAJC12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 Tags treatable
Green Green List (high evidence)	ETHE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ethylmalonic encephalopathy 602473 Tags
Green Green List (high evidence)	FA2H	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes fatty acid hydroxylase-associated neurodegeneration Spastic paraplegia 35, autosomal recessive 612319 Dystonia Tags
Green Green List (high evidence)	FBXO7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dystonia juvenile parkinsonism Tags
Green Green List (high evidence)	FOLR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 Folate receptor alpha deficiency Tags treatable
Green Green List (high evidence)	FOXP2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Speech-language disorder-1 602081 Tags
Green Green List (high evidence)	FTL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 3 606159 Tags
Green Green List (high evidence)	GCDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dystonia Tags
Green Green List (high evidence)	GCH1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GTP-cyclohydrolase deficiency Hyperphenylalaninemia, BH4-deficient, B, 233910 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 Dopa-Responsive Dystonia (DRD) Tags treatable
Green Green List (high evidence)	GLRA1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperekplexia, hereditary 1, 149400 Tags
Green Green List (high evidence)	GLRB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperekplexia 2, 614619 Tags
Green Green List (high evidence)	GNAO1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Neurodevelopmental disorder with involuntary movements, 617493 Tags mosaicism
Green Green List (high evidence)	HIBCH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency 250620 Tags
Green Green List (high evidence)	HPCA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dystonia 2, torsion, autosomal recessive, 224500 generalized dystonia with additional neurological features childhood-onset generalized dystonia adolescence-onset segmental dystonia Tags
Green Green List (high evidence)	HTRA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIII 617248 Tags
Green Green List (high evidence)	IFIH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Aicardi-Goutieres syndrome 7 615846 Tags
Green Green List (high evidence)	Xp11.23 region (includes MAOA and MAOB) Loss ISCA-37468-Loss Region	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 Other Phenotypes short stature severe intellectual disability lip-smacking exiting behavior autistic features hypotonia stereotypical hand movements eleveated serotonin levels episodes of sudden loss of muscle tone Tags
Green Green List (high evidence)	ISG15	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 38 616126 Tags
Green Green List (high evidence)	IVD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Isovaleric acidemia 243500 Tags
Green Green List (high evidence)	JPH3_CTG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Huntington disease-like 2 606438 Tags STR
Green Green List (high evidence)	KCNA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes EPISODIC ATAXIA, TYPE 1 myokymia with periodic ataxia Tags treatable
Green Green List (high evidence)	KCNQ2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Myokymia, 121200 Dystonia Tags
Green Green List (high evidence)	KCNQ3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Seizures, benign neonatal, type 2, 121201 Tags
Green Green List (high evidence)	KMT2B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Dystonia 28, childhood-onset 617284 early-onset dystonia Tags treatable
Green Green List (high evidence)	MAOA	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 Review Green Phenotypes Brunner syndrome, 300615 Monoamine oxidase A deficiency Tags
Green Green List (high evidence)	MECR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 Tags
Green Green List (high evidence)	MT-ATP6	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-ND1	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Tags
Green Green List (high evidence)	MT-ND6	0 reviews	MITOCHONDRIAL	Sources Expert Review Green Phenotypes Leber Optic Atrophy And Dystonia Tags
Green Green List (high evidence)	MUT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria, mut(0) type 251000 Tags new-gene-name
Green Green List (high evidence)	NDUFA1	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 Phenotypes Mitochondrial complex I deficiency 252010 Tags
Green Green List (high evidence)	NDUFA10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leigh syndrome 256000 Tags
Green Green List (high evidence)	NDUFAF2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 10, 618233 Tags
Green Green List (high evidence)	NDUFAF6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000 Tags
Green Green List (high evidence)	NDUFS4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency 252010 Leigh syndrome 256000 Tags
Green Green List (high evidence)	NDUFS7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 3, 618224 Tags
Green Green List (high evidence)	NDUFS8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222 Tags
Green Green List (high evidence)	NDUFV1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Tags
Green Green List (high evidence)	NKX6-2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 Tags
Green Green List (high evidence)	OCLN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Band-like calcification with simplified gyration and polymicrogyria 251290 Tags
Green Green List (high evidence)	PANK2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes pantothenate kinase-associated neurodegeneration Dystonia Tags
Green Green List (high evidence)	PCCA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Propionicacidemia 606054 Tags
Green Green List (high evidence)	PCCB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Propionicacidemia 606054 Tags
Green Green List (high evidence)	PDE10A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Striatal degeneration, autosomal dominant 616922 Dyskinesia, limb and orofacial, infantile-onset 616921 Tags
Green Green List (high evidence)	PDGFB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Basal ganglia calcification, idiopathic, 5 615483 Tags
Green Green List (high evidence)	PDGFRB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Basal ganglia calcification, idiopathic, 4 615007 Dystonia Tags
Green Green List (high evidence)	PDHA1	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 Review Green Phenotypes Pyruvate dehydrogenase E1-alpha deficiency 312170 Tags
Green Green List (high evidence)	PDP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782 Tags
Green Green List (high evidence)	PINK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Parkinson disease 6, early onset Dystonia Tags
Green Green List (high evidence)	PLA2G6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PLA2G6-associated neurodegeneration Parkinson disease 14, autosomal recessive 612953 Neurodegeneration with brain iron accumulation 2B 610217 Infantile neuroaxonal dystrophy 1 256600 Tags
Green Green List (high evidence)	PNKD	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Familial Paroxysmal Nonkinesigenic Dyskinesia PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 Paroxysmal nonkinesigenic dyskinesia, 118800 Tags
Green Green List (high evidence)	PRKN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes juvenile parkinsonism/dystonia Dystonia Parkinson disease, juvenile, type 2 Tags
Green Green List (high evidence)	PRKRA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dystonia 16, 612067 Dystonia early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa Tags
Green Green List (high evidence)	PRNP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Cerebral amyloid angiopathy, PRNP-related 137440 Huntington disease-like 1 603218 Gerstmann-Straussler disease 137440 Creutzfeldt-Jakob disease 123400 Tags
Green Green List (high evidence)	PRRT2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions episodic kinesigenic dyskinesia CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS SEIZURES, BENIGN FAMILIAL INFANTILE, 2 dystonia and occasionally hemiplegic migraine and epilepsy Episodic kinesigenic dyskinesia 1, 128200 Tags treatable
Green Green List (high evidence)	PTS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 6-Pyruvoyltetrahydropterin Synthase Deficiency Hyperphenylalaninemia, BH4-deficient, A, 261640 Dystonia 6-Pyruvoyl-tetrahydropterin synthase deficiency Tags treatable
Green Green List (high evidence)	QDPR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 Dystonia Dihydropteridine reductase deficiency Tags
Green Green List (high evidence)	RAB39B	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Waisman syndrome 311510 Tags
Green Green List (high evidence)	SCN1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Dravet syndrome several epilepsy, convulsion and migraine disorders. familial hemiplegic migraine 3 Tags
Green Green List (high evidence)	SCN8A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes epilepsy paroxysmal kinesigenic dyskinesias Tags
Green Green List (high evidence)	SDHA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cardiomyopathy, dilated, 1GG, 613642 Leigh syndrome, 256000 Mitochondrial respiratory chain complex II deficiency, 252011 Tags
Green Green List (high evidence)	SERAC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MEGDEL syndrome Dystonia MEGDHEL syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome Lesions in the basal ganglia Tags
Green Green List (high evidence)	SGCE	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Phenotypes Myoclonus dystonia syndrome Myoclonus-Dystonia maternally imprinted Dystonia-11, myoclonic, 159900 Tags
Green Green List (high evidence)	SLC18A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) Vesicular monoamine transporter deficiency Tags
Green Green List (high evidence)	SLC19A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483 Dystonia Tags
Green Green List (high evidence)	SLC1A3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes EPISODIC ATAXIA, TYPE 6 Tags
Green Green List (high evidence)	SLC20A2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Dystonia Basal ganglia calcification, idiopathic, 1 213600 Tags
Green Green List (high evidence)	SLC25A19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710 Microcephaly, Amish type 607196 Tags
Green Green List (high evidence)	SLC2A1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes EPILEPSY, IDIOPATHIC GENERALIZED dystonia 9 GLUT1 deficiency syndrome 2 GLUT1 deficiency syndrome 2, childhood onset Dystonia GLUT1 deficiency syndrome 1, infantile onset, severe GLUT1 deficiency syndrome 1, 606777 paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia Tags treatable
Green Green List (high evidence)	SLC30A10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 Tags treatable
Green Green List (high evidence)	SLC39A14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypermanganesemia with dystonia 2 617013 Tags
Green Green List (high evidence)	SLC6A3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes {Nicotine dependence, protection against}, 188890 Parkinsonism-dystonia, infantile, 613135 Dopamine transporter deficiency Tags
Green Green List (high evidence)	SLC6A5	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperekplexia 3, 614618 Tags
Green Green List (high evidence)	SPR	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sepiapterin reductase deficiency Dopa-Responsive Dystonia paediatric form of dopa responsive dystonia Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 Tags treatable
Green Green List (high evidence)	SUCLA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dystonia Tags
Green Green List (high evidence)	SUCLG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 Tags
Green Green List (high evidence)	SURF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 4K, 616684 Leigh syndrome, due to COX IV deficiency, 256000 Tags
Green Green List (high evidence)	SYNJ1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes juvenile Parkinsonism Parkinson disease 20, early-onset Tags
Green Green List (high evidence)	TBP_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 17 607136 Tags STR
Green Green List (high evidence)	TH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Segawa syndrome paediatric form of dopa responsive dystonia Tyrosine Hydroxylase Deficiency DOPA-responsive dystonia Segawa syndrome, recessive, 605407 Tags treatable
Green Green List (high evidence)	THAP1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Dystonia 6, torsion, 602629 Dystonia Tags
Green Green List (high evidence)	TOR1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Dystonia-1, torsion, 128100 Early-Onset Primary Dystonia Autosomal dominant or sporadic dystonia (DYT1) Tags
Green Green List (high evidence)	TUBA1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Lissencephaly 3 611603 Tags
Green Green List (high evidence)	TUBB4A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ?Dystonia 4, torsion, autosomal dominant, 128101 Dystonia hereditary whispering dysphonia Leukodystrophy, hypomyelinating, 6 612438 Tags
Green Green List (high evidence)	VAC14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Striatonigral degeneration, childhood-onset 617054 Tags
Green Green List (high evidence)	VPS13A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes complex parkinsonism Choreoacanthocytosis 200150 Tags
Green Green List (high evidence)	WDR45	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 Review Green Phenotypes Neurodegeneration with brain iron accumulation 5 300894 Dystonia beta-propeller protein-associated neurodegeneration Tags
Green Green List (high evidence)	WDR73	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Galloway-Mowat syndrome 1, 251300 Tags
Green Green List (high evidence)	XPR1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Basal ganglia calcification, idiopathic, 6 616413 Tags
Green Green List (high evidence)	YY1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Gabriele-de Vries syndrome 617557 Tags
Amber Amber List (moderate evidence)	CIZ1	0 reviews	Unknown	Sources Expert Review Amber Phenotypes Dystonia 23, 614860 Tags
Amber Amber List (moderate evidence)	GFAP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Alexander disease 203450 Tags
Amber Amber List (moderate evidence)	GNAL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Dystonia 25, 615073 Tags watchlist
Amber Amber List (moderate evidence)	KCNK18	0 reviews	Unknown	Sources Expert Review Amber Phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 Tags
Amber Amber List (moderate evidence)	TAF1	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 Review Amber Phenotypes Dystonia-Parkinsonism, X-linked, 314250 (NB complex mutation) Tags
Red Red List (low evidence)	ACTB	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 Tags
Red Red List (low evidence)	AFG3L2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	AIFM1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 6 300816 Tags watchlist
Red Red List (low evidence)	ARSA	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	ARX	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	ATN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Dentatorubro-pallidoluysian atrophy 125370 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	AUH	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	BDNF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Central hypoventilation syndrome, congenital 209880 Tags
Red Red List (low evidence)	CYP27A1	1 review 1 green	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	DCAF10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	DCTN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Neuropathy, distal hereditary motor, type VIIB Tags
Red Red List (low evidence)	DRD2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia, myoclonic, 159900 Tags
Red Red List (low evidence)	DRD5	0 reviews	Unknown	Sources Expert Review Red Phenotypes {Blepharospasm, primary benign}, 606798 Tags
Red Red List (low evidence)	EARS2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	ERCC6	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	FASTKD2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	FOXG1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	FOXRED1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	GAMT	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	HEXA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes [Hex A pseudodeficiency] 272800 AR GM2-gangliosidosis, several forms 272800 Tay-Sachs disease 272800 Tags
Red Red List (low evidence)	HPRT1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	HTT	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Huntington disease 143100 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	L2HGDH	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	MAT1A	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	MCOLN1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	MMADHC	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	MPV17	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	MR1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Paroxysmal/Episodic dystonia Dystonia Tags
Red Red List (low evidence)	NDUFA12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Leigh syndrome due to mitochondrial complex 1 deficiency 256000 Tags
Red Red List (low evidence)	NDUFA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	NDUFA9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000 Tags
Red Red List (low evidence)	NDUFS3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial complex I deficiency 252010 Leigh syndrome due to mitochondrial complex I deficiency 256000 Tags
Red Red List (low evidence)	NKX2-1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Chorea, hereditary benign 118700 Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 Tags
Red Red List (low evidence)	NPC2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	NUP62	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Striatonigral degeneration, infantile 271930 Tags founder-effect watchlist
Red Red List (low evidence)	PARK7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Parkinson disease 7, autosomal recessive early-onset Tags
Red Red List (low evidence)	PCDH12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes microcephaly epilepsy midbrain abnormalities intellectual disability hypothalamic abnormalities perithalamic hyperechogenicity periventricular hyperechogenicity Tags founder-effect
Red Red List (low evidence)	PDHX	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	PDX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes MODY, type IV 606392 Pancreatic agenesis 1 260370 Tags
Red Red List (low evidence)	PITX3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Disorders of Dopamine Synthesis Regulation Tags
Red Red List (low evidence)	PLP1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	PNPT1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	PSEN1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	PTEN	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	RNASEH2A	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	RNASEH2B	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	RNASEH2C	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	SAMHD1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	SCN9A	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Paroxysmal extreme pain disorder, 167400 Congenital Indifference to Pain Paroxysmal Extreme Pain Disorder Hereditary Sensory Neuropathy Febrile seizures, familial, 3B, 613863 Dysosteosclerosis Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Insensitivity to pain, channelopathy-associated, 243000 Erythermalgia, primary, 133020 Erythermalgia, Primary Tags
Red Red List (low evidence)	SCP2	0 reviews	Unknown	Sources Expert Review Red Phenotypes Leukoencephalopathy with dystonia and motor neuropathy, 613724 Tags
Red Red List (low evidence)	SDHAF1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	SLC46A1	0 reviews	Unknown	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	SUOX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	TIMM8A	0 reviews	Not set	Sources Expert Review Red Phenotypes Deafness-Dystonia-Optic Neuronopathy Syndrome Tags
Red Red List (low evidence)	TPK1	0 reviews	Not set	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	TREM2	0 reviews	Not set	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	TREX1	0 reviews	Not set	Sources Expert Review Red Phenotypes Dystonia Tags
Red Red List (low evidence)	VPS37A	0 reviews	Not set	Sources Expert Review Red Phenotypes Dystonia Tags

Major version comments

2019-01-09 18:33 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
Checked against super panel made up of the panel constituents. Ready to promote to version 1

Dystonia - childhood onset (Version 1.14)

7 reviewers

184 Entities

11 reviewed, 121 green

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