Adult onset dystonia, chorea or related movement disorder (Version 3.18)

The latest signed off version for the GMS is v3.12. The current version, shown here, may differ from the signed-off version.

Description

This panel is used for clinical indication 'R56 Adult onset dystonia, chorea or related movement disorder' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R56 Adult onset dystonia, chorea or related movement disorder'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

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

This gene list was originally created using genes and their overall ratings from the following gene panels:
- Early onset dystonia (v1.76)
- Parkinson Disease and Complex Parkinsonism (v1.64)
- Brain channelopathy (v1.48)
- Structural basal ganglia disorders (v1.10)

Panel Activity

11 reviewers

Ellen McDonagh (Genomics England Curator)

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

Group: Other
Workplace: Other
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Louise Daugherty (Genomics England Curator)

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

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

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

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

Group: Other biotech or pharmaceutical
Workplace: Industry
Emily Jones (North Bristol NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
James Polke (North Thames GLH)

Group: Other NHS organisation
Workplace: NHS diagnostic lab

218 Entities

218 reviewed, 76 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 218 Entitiess
Green Green List (high evidence)	ACTB	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS South West GLH 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)	AFG3L2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487 Tags
Green Green List (high evidence)	ANO3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dystonia 24 OMIM:615034 dystonia 24 MONDO:0014019 Tags
Green Green List (high evidence)	APTX	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920 ataxia with oculomotor apraxia type 1 MONDO:0008842 Tags
Green Green List (high evidence)	ATM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ataxia-telangiectasia OMIM:208900 ataxia telangiectasia MONDO:0008840 Tags
Green Green List (high evidence)	ATN1_CAG STR	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM:125370 Tags STR
Green Green List (high evidence)	ATP13A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Kufor-Rakeb Syndrome OMIM:606693 Kufor-Rakeb syndrome MONDO:0011706 Tags
Green Green List (high evidence)	ATP1A2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes familial basilar migraine OMIM:602481 familial hemiplegic migraine type 2 OMIM:602481 migraine, familial hemiplegic, 2 MONDO:0011232 alternating hemiplegia of childhood OMIM:104290 alternating hemiplegia of childhood 1 MONDO:0007087 Tags
Green Green List (high evidence)	ATP1A3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Alternating hemiplegia of childhood 2 OMIM:614820 alternating hemiplegia of childhood 2 MONDO:0013900 CAPOS syndrome OMIM:601338 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0011038 Dystonia-12 OMIM:128235 dystonia 12 MONDO:0007496 Tags
Green Green List (high evidence)	ATP7B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Wilson disease OMIM:277900 Wilson disease MONDO:0010200 Tags
Green Green List (high evidence)	ATXN1_CAG STR	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR
Green Green List (high evidence)	ATXN2_CAG STR	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Tags STR
Green Green List (high evidence)	ATXN3_CAG STR	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Phenotypes Machado-Joseph disease, OMIM:109150 Tags STR
Green Green List (high evidence)	C19orf12	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Spastic paraplegia 43, autosomal recessive OMIM:615043 hereditary spastic paraplegia 43 MONDO:0014024 Neurodegeneration with brain iron accumulation 4 OMIM:614298 neurodegeneration with brain iron accumulation 4 MONDO:0013674 Tags
Green Green List (high evidence)	C9orf72_GGGGCC STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 Tags STR
Green Green List (high evidence)	CACNA1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Episodic ataxia, type 2, OMIM:108500 Migraine, familial hemiplegic, 1, OMIM:141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 Tags
Green Green List (high evidence)	CACNA1A_CAG STR	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Green Green List (high evidence)	CHMP2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, OMIM:600795 Tags
Green Green List (high evidence)	CP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cerebellar ataxia, OMIM:604290 Hypoceruloplasminemia, hereditary, OMIM:604290 Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290 Tags
Green Green List (high evidence)	CSF1R	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 Tags
Green Green List (high evidence)	CSTB_CCCCGCCCCGCG STR	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags STR
Green Green List (high evidence)	CYP27A1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cerebrotendinous xanthomatosis, OMIM:213700 Tags
Green Green List (high evidence)	DCAF17	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Woodhouse-Sakati syndrome, OMIM:241080 Tags
Green Green List (high evidence)	DCTN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Perry syndrome, OMIM:168605 Neuronopathy, distal hereditary motor, type VIIB, OMIM:607641 Tags
Green Green List (high evidence)	DNAJC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Parkinson disease 19b, early-onset, OMIM:615528 Parkinson disease 19a juvenile-onset, OMIM:615528 juvenile onset Parkinson disease 19A, MONDO:0014231 Tags
Green Green List (high evidence)	FBXO7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Parkinson disease 15, autosomal recessive, OMIM:260300 Tags
Green Green List (high evidence)	FTL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Neurodegeneration with brain iron accumulation 3, OMIM:606159 Tags
Green Green List (high evidence)	GBA	6 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Tags new-gene-name to_be_confirmed_NHSE
Green Green List (high evidence)	GCH1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230 Tags
Green Green List (high evidence)	GFAP	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Alexander disease, OMIM:203450 Tags
Green Green List (high evidence)	GNAL	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS South West GLH Phenotypes Dystonia 25, OMIM:615073 Tags
Green Green List (high evidence)	GRN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485 Tags
Green Green List (high evidence)	GTPBP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Jaberi-Elahi syndrome, OMIM:617988 Tags
Green Green List (high evidence)	HPCA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dystonia 2, torsion, autosomal recessive, OMIM:224500 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 London North GLH NHS GMS Phenotypes Huntington disease-like 2, OMIM:606438 Tags STR
Green Green List (high evidence)	KIAA1161	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317 Tags gene-checked new-gene-name
Green Green List (high evidence)	KMT2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dystonia 28, childhood-onset, OMIM:617284 Tags
Green Green List (high evidence)	LRRK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes {Parkinson disease 8}, OMIM:607060 Tags
Green Green List (high evidence)	LYST	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Chediak-Higashi syndrome, OMIM:214500 Tags
Green Green List (high evidence)	MAPT	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Supranuclear palsy, progressive, OMIM:601104 Supranuclear palsy, progressive atypical, OMIM:260540 {Parkinson disease, susceptibility to}, OMIM:168600 Dementia, frontotemporal, with or without parkinsonism, OMIM:600274 Pick disease, OMIM:172700 Tags
Green Green List (high evidence)	NKX2-1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978 Chorea, hereditary benign, OMIM:118700 Tags
Green Green List (high evidence)	PANK2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Neurodegeneration with brain iron accumulation 1, OMIM:234200 Tags
Green Green List (high evidence)	PARK7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Parkinson disease 7, autosomal recessive early-onset, OMIM:606324 Tags
Green Green List (high evidence)	PDGFB	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Basal ganglia calcification, idiopathic, 5, OMIM:615483 Tags
Green Green List (high evidence)	PDGFRB	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Basal ganglia calcification, idiopathic, 4, OMIM:615007 Tags
Green Green List (high evidence)	PINK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Parkinson disease 6, early onset, OMIM:605909 Tags
Green Green List (high evidence)	PLA2G6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Parkinson disease 14, autosomal recessive, OMIM:612953 Neurodegeneration with brain iron accumulation 2B, OMIM:610217 Tags
Green Green List (high evidence)	PNKD	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Paroxysmal nonkinesigenic dyskinesia 1, OMIM:118800 Tags
Green Green List (high evidence)	PPP2R2B_CAG STR	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags STR
Green Green List (high evidence)	PPP2R5D	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 35 OMIM:616355 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0014602 Tags
Green Green List (high evidence)	PRKN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Parkinson disease, juvenile, type 2, OMIM:600116 Tags
Green Green List (high evidence)	PRKRA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dystonia 16, OMIM:612067 Tags
Green Green List (high evidence)	PRNP	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cerebral amyloid angiopathy, PRNP-related, OMIM:137440 Huntington disease-like 1, OMIM:603218 Gerstmann-Straussler disease, OMIM:137440 Creutzfeldt-Jakob disease, OMIM:123400 Tags
Green Green List (high evidence)	PRRT2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Episodic kinesigenic dyskinesia 1, OMIM:128200 Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066 Tags
Green Green List (high evidence)	RAB39B	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 Expert Review Green London North GLH NHS GMS Phenotypes Waisman syndrome, OMIM:311510 Tags
Green Green List (high evidence)	RNF216	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840 Tags
Green Green List (high evidence)	SGCE	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dystonia-11, myoclonic, OMIM:159900 Tags
Green Green List (high evidence)	SLC19A3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), OMIM:607483 Tags
Green Green List (high evidence)	SLC20A2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Basal ganglia calcification, idiopathic, 1, OMIM:213600 Tags
Green Green List (high evidence)	SLC2A1	3 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dystonia 9, OMIM:601042 GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777 GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126 Tags
Green Green List (high evidence)	SLC30A10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypermanganesemia with dystonia 1, OMIM:613280 Tags
Green Green List (high evidence)	SNCA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dementia, Lewy body, OMIM:127750 Parkinson disease 4, OMIM:605543 Parkinson disease 1, OMIM:168601 Tags
Green Green List (high evidence)	SPG11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Spastic paraplegia 11, autosomal recessive, OMIM:604360 Charcot-Marie-Tooth disease, axonal, type 2X, OMIM:616668 Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099 Tags
Green Green List (high evidence)	SPR	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 Tags
Green Green List (high evidence)	SYNJ1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Parkinson disease 20, early-onset, OMIM:615530 Tags
Green Green List (high evidence)	TBK1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439 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 London North GLH NHS GMS Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags STR
Green Green List (high evidence)	THAP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dystonia 6, torsion, OMIM:602629 Tags
Green Green List (high evidence)	TIMM8A	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS South West GLH Phenotypes Mohr-Tranebjaerg syndrome, OMIM:304700 Tags
Green Green List (high evidence)	TOR1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dystonia-1, torsion, OMIM:128100 Dystonic disorder, MONDO:0003441 Tags
Green Green List (high evidence)	TUBB4A	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dystonia 4, torsion, autosomal dominant, OMIM:128101 Tags
Green Green List (high evidence)	VPS13A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Choreoacanthocytosis, OMIM:200150 Tags
Green Green List (high evidence)	VPS16	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Dystonia 30, OMIM:619291 Dystonia Associated with Lysosomal Abnormalities Tags
Green Green List (high evidence)	VPS35	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Parkinson disease 17, OMIM:614203 Tags
Green Green List (high evidence)	WDR45	2 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 Expert Review Green London North GLH NHS GMS Phenotypes Neurodegeneration with brain iron accumulation 5, OMIM:300894 Tags
Green Green List (high evidence)	XPR1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Basal ganglia calcification, idiopathic, 6, OMIM:616413 Tags
Amber Amber List (moderate evidence)	ARSA	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Metachromatic leukodystrophy, OMIM:250100 Tags
Amber Amber List (moderate evidence)	ARX	3 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 NHS GMS South West GLH 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
Amber Amber List (moderate evidence)	AUH	2 reviews	Not set	Sources Expert Review Amber NHS GMS South West GLH Phenotypes 3-methylglutaconic aciduria, type I, OMIM:250950 Dystonia Tags
Amber Amber List (moderate evidence)	CHCHD2	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Parkinson disease 22, autosomal dominant, OMIM:616710 Tags
Amber Amber List (moderate evidence)	CIZ1	3 reviews 1 red	Not set	Sources Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Dystonia 23, 614860 Tags
Amber Amber List (moderate evidence)	DDC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643 Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 Tags
Amber Amber List (moderate evidence)	EIF4G1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Parkinsons disease 18, 614251 Tags
Amber Amber List (moderate evidence)	FOXG1	2 reviews	Not set	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Rett Syndrome, congenital variant, 613454 Dystonia Tags
Amber Amber List (moderate evidence)	GLB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes GM1-gangliosidosis, type III, 230650 Tags
Amber Amber List (moderate evidence)	PDE2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Intellectual developmental disorder with paroxysmal dyskinesia or seizures, OMIM:619150 Tags
Amber Amber List (moderate evidence)	PLP1	2 reviews	Not set	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Pelizaeus-Merzbacher disease, 312080 Spastic paraplegia 2, X-linked, 312920 Dystonia Tags
Amber Amber List (moderate evidence)	PTS	2 reviews	Not set	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 Dystonia Tags
Amber Amber List (moderate evidence)	QDPR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 Dystonia Tags
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 Expert Review Amber London North GLH NHS GMS South West GLH Phenotypes Dystonia-Parkinsonism, X-linked, OMIM:314250 Tags
Amber Amber List (moderate evidence)	UCHL1	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH Phenotypes {?Parkinson disease 5, susceptibility to}, OMIM:613643 Parkinson disease 5, autosomal dominant, susceptibility to, MONDO:0013340 Spastic paraplegia 79B, autosomal recessive, OMIM:615491 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209 Spastic paraplegia 79A, autosomal dominant, OMIM:620221 Tags
Amber Amber List (moderate evidence)	VAMP2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, OMIM:618760 Tags
Amber Amber List (moderate evidence)	VPS41	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Generalised Neurodevelopmental disorder Ataxia Dystonia Tags
Amber Amber List (moderate evidence)	YY1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Gabriele-de Vries syndrome, OMIM:617557 Tags
Red Red List (low evidence)	ADAR	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes dystonia Aicardi-Goutieres syndrome 6, 615010 Tags
Red Red List (low evidence)	ADCY5	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes dystonia Familial dyskinesia 606703 Dyskinesia, familial, with facial myokymia, 606703 Tags
Red Red List (low evidence)	AIFM1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red NHS GMS South West GLH Phenotypes Combined oxidative phosphorylation deficiency 6 300816 Tags
Red Red List (low evidence)	AP1S2	4 reviews 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red London North GLH NHS GMS Phenotypes Pettigrew syndrome, OMIM:304340 Tags
Red Red List (low evidence)	ATN1	4 reviews 1 green 2 red	Other	Sources Expert Review Red London North GLH NHS GMS South West GLH Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM:125370 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATP6AP2	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red NHS GMS South West GLH Phenotypes ?Parkinsonism with spasticity, X-linked 300911 Mental retardation, X-linked, syndromic, Hedera type 300423 Tags
Red Red List (low evidence)	ATXN1	3 reviews 2 red	Other	Sources London North GLH NHS GMS Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN2	3 reviews 2 red	Other	Sources Expert Review Red NHS GMS South West GLH Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN3	3 reviews 2 red	Other	Sources Expert Review Red NHS GMS South West GLH Phenotypes Machado-Joseph disease, OMIM:109150 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	BCAP31	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red London North GLH NHS GMS Phenotypes Deafness, dystonia and cerebellar hypomyelination, 300475 DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS Tags
Red Red List (low evidence)	BCS1L	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Bjornstad syndrome, 262000 Leigh syndrome, 256000 Mitochondrial complex III deficiency, nuclear type 1, 124000 Tags
Red Red List (low evidence)	BDNF	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS South West GLH Phenotypes Central hypoventilation syndrome, congenital 209880 Tags
Red Red List (low evidence)	C9orf72	3 reviews 2 red	Other	Sources Expert Review Red NHS GMS South West GLH Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	CACNB4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 EPISODIC ATAXIA, TYPE 5 Tags
Red Red List (low evidence)	COASY	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes COASY protein-associated neurodegeneration Neurodegeneration with brain iron accumulation 6 Neurodegeneration with brain iron accumulation 6 615643 Tags
Red Red List (low evidence)	COX10	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 Tags
Red Red List (low evidence)	COX15	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 Tags
Red Red List (low evidence)	CSTB	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags nucleotide-repeat-expansion
Red Red List (low evidence)	DCAF10	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Tags
Red Red List (low evidence)	DLAT	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes episodic dystonia pyruvate dehydrogenase deficiency Pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase E2 deficiency 245348 Tags
Red Red List (low evidence)	DRD2	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Dystonia, myoclonic, 159900 Tags
Red Red List (low evidence)	DRD5	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes {Blepharospasm, primary benign}, 606798 Tags
Red Red List (low evidence)	EARS2	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Combined oxidative phosphorylation deficiency 12, 614924 Dystonia Tags
Red Red List (low evidence)	ERCC6	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Dystonia Tags
Red Red List (low evidence)	ETHE1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Ethylmalonic encephalopathy 602473 Tags
Red Red List (low evidence)	FA2H	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes fatty acid hydroxylase-associated neurodegeneration Spastic paraplegia 35, autosomal recessive 612319 Dystonia Tags
Red Red List (low evidence)	FASTKD2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Combined oxidative phosphorylation deficiency 44, OMIM:618855 Dystonia Tags
Red Red List (low evidence)	FOXP2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes Speech-language disorder-1 602081 Tags
Red Red List (low evidence)	FOXRED1	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 19, 618241 Dystonia Tags
Red Red List (low evidence)	GAMT	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Cerebral creatine deficiency syndrome 2, 612736 Dystonia Tags
Red Red List (low evidence)	GCDH	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Tags
Red Red List (low evidence)	GIGYF2	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Susceptibility to Parkinson disease 11, 607688 {Parkinson disease 11} Tags
Red Red List (low evidence)	GLRA1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Hyperekplexia, hereditary 1, 149400 Tags
Red Red List (low evidence)	GLRB	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Hyperekplexia 2, 614619 Tags
Red Red List (low evidence)	GNAO1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Neurodevelopmental disorder with involuntary movements, 617493 Tags
Red Red List (low evidence)	HEXA	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Hex A pseudodeficiency 272800 GM2-gangliosidosis, several forms 272800 Tay-Sachs disease 272800 Tags
Red Red List (low evidence)	HIBCH	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency 250620 Tags
Red Red List (low evidence)	HPRT1	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Lesch-Nyhan syndrome, OMIM:300322 Dystonia Tags
Red Red List (low evidence)	HTRA2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Parkinson Disease, Dominant Parkinson disease 13, 610297 3-methylglutaconic aciduria, type VIII 617248 Tags
Red Red List (low evidence)	HTT	3 reviews 2 red	Other	Sources Expert Review Red NHS GMS South West GLH Phenotypes Huntington disease, OMIM:143100 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	IFIH1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes Aicardi-Goutieres syndrome 7, OMIM:615846 Tags
Red Red List (low evidence)	IPPK	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Early Onset Complex Disease Tags
Red Red List (low evidence)	Xp11.23 region (includes MAOA and MAOB) Loss ISCA-37468-Loss Region	2 reviews 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Other Phenotypes hypotonia episodes of sudden loss of muscle tone short stature severe intellectual disability autistic features eleveated serotonin levels exiting behavior lip-smacking stereotypical hand movements Tags
Red Red List (low evidence)	ISG15	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Immunodeficiency 38 616126 Tags
Red Red List (low evidence)	IVD	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Isovaleric acidemia Tags
Red Red List (low evidence)	JPH3	3 reviews 2 red	Other	Sources Expert Review Red NHS GMS South West GLH Phenotypes Huntington disease-like 2, OMIM:606438 Tags
Red Red List (low evidence)	KCNA1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes EPISODIC ATAXIA, TYPE 1 myokymia with periodic ataxia Tags
Red Red List (low evidence)	KCNK18	3 reviews 3 red	Not set	Sources Expert Review Red London North GLH NHS GMS South West GLH Phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 Tags
Red Red List (low evidence)	KCNQ2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes Myokymia, 121200 Tags
Red Red List (low evidence)	KCNQ3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes Seizures, benign neonatal, type 2, 121201 Tags
Red Red List (low evidence)	L2HGDH	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes L-2-hydroxyglutaric aciduria, 236792 Dystonia Tags
Red Red List (low evidence)	MAT1A	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 Dystonia Tags
Red Red List (low evidence)	MCOLN1	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Mucolipidosis IV, 252650 Dystonia Tags
Red Red List (low evidence)	MECR	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities Tags
Red Red List (low evidence)	MMADHC	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Methylmalonic aciduria, cblD type, variant 2 Homocystinuria, cblD type, variant 1 Methylmalonic aciduria and homocystinuria, cblD type, 277410 Dystonia Tags
Red Red List (low evidence)	MPV17	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Dystonia Tags
Red Red List (low evidence)	MR1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS South West GLH Phenotypes Paroxysmal/Episodic dystonia Dystonia Tags
Red Red List (low evidence)	MT-ATP6	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Red London North GLH NHS GMS Tags
Red Red List (low evidence)	MT-ND1	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Red London North GLH NHS GMS Tags
Red Red List (low evidence)	MT-ND6	2 reviews 1 red	MITOCHONDRIAL	Sources Expert Review Red London North GLH NHS GMS Phenotypes Leber Optic Atrophy And Dystonia Tags
Red Red List (low evidence)	MUT	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Methylmalonic aciduria, mut(0) type Tags new-gene-name
Red Red List (low evidence)	NDUFA1	3 reviews 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency Tags
Red Red List (low evidence)	NDUFA10	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Leigh syndrome Tags
Red Red List (low evidence)	NDUFA12	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 Tags
Red Red List (low evidence)	NDUFA2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 13 Tags
Red Red List (low evidence)	NDUFA9	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 Leigh syndrome due to mitochondrial complex I deficiency Tags
Red Red List (low evidence)	NDUFAF2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 10, 618233 Tags
Red Red List (low evidence)	NDUFAF6	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Leigh syndrome due to mitochondrial complex I deficiency Tags
Red Red List (low evidence)	NDUFS3	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000 Mitochondrial complex I deficiency Mitochondrial complex I deficiency, nuclear type 8, 618230 Tags
Red Red List (low evidence)	NDUFS4	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency 252010 Leigh syndrome 256000 Tags
Red Red List (low evidence)	NDUFS7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 3, 618224 Tags
Red Red List (low evidence)	NDUFS8	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222 Tags
Red Red List (low evidence)	NDUFV1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, 252010 Tags
Red Red List (low evidence)	NKX6-2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy Tags
Red Red List (low evidence)	NPC2	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Niemann-pick disease, type C2, 607625 Dystonia Tags
Red Red List (low evidence)	NR4A2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Parkinson Disease, Dominant/Recessive (susceptibility to) Tags
Red Red List (low evidence)	NUP62	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Striatonigral degeneration, infantile Striatonigral degeneration, infantile 271930 Tags
Red Red List (low evidence)	OCLN	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Band-like calcification with simplified gyration and polymicrogyria 251290 Tags
Red Red List (low evidence)	OPA3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes 3-methylglutaconic aciduria, type III, 258501 Costeff syndrome Tags
Red Red List (low evidence)	PCCA	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Propionicacidemia Tags
Red Red List (low evidence)	PCCB	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Propionicacidemia Tags
Red Red List (low evidence)	PCDH12	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes intellectual disability Microcephaly perithalamic hyperechogenicity midbrain abnormalities hypothalamic abnormalities epilepsy microcephaly periventricular hyperechogenicity Tags
Red Red List (low evidence)	PDE10A	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Striatal degeneration, autosomal dominant, OMIM:616922 Dyskinesia, limb and orofacial, infantile-onset, OMIM:616921 Tags
Red Red List (low evidence)	PDHA1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red London North GLH NHS GMS Phenotypes Pyruvate dehydrogenase E1-alpha deficiency 312170 Tags
Red Red List (low evidence)	PDHX	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Lacticacidemia due to PDX1 deficiency, 245349 Dystonia Tags
Red Red List (low evidence)	PDP1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782 Tags
Red Red List (low evidence)	PDX1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes MODY, type IV 606392 Pancreatic agenesis 1 260370 Pancreatic agenesis 1 Tags
Red Red List (low evidence)	PNPT1	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932 Dystonia Tags
Red Red List (low evidence)	PPP2R2B	3 reviews 2 red	Other	Sources London North GLH NHS GMS Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	PSEN1	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Pick disease, 172700 Dementia, frontotemporal 600274 Alzheimer disease, type 3, 607822 Cardiomyopathy, dilated, 1U, 613694 Dystonia Tags
Red Red List (low evidence)	PTEN	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Cowden syndrome 1, 158350 Macrocephaly/autism syndrome, 605309 Lhermitte-Duclos syndrome, 158350 VATER association with macrocephaly and ventriculomegaly, 276950 Dystonia Tags
Red Red List (low evidence)	RNASEH2A	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Aicardi-Goutieres syndrome 4, 610333 Dystonia Tags
Red Red List (low evidence)	RNASEH2B	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 Dystonia (onset in infancy) Tags
Red Red List (low evidence)	RNASEH2C	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Aicardi-Goutieres syndrome 3, 610329 Dystonia Tags
Red Red List (low evidence)	SAMHD1	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Aicardi-Goutieres syndrome 5, 612952 Dystonia Tags
Red Red List (low evidence)	SCN1A	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes Dravet syndrome several epilepsy, convulsion and migraine disorders. familial hemiplegic migraine 3 Tags
Red Red List (low evidence)	SCN8A	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes epilepsy paroxysmal kinesigenic dyskinesias Tags
Red Red List (low evidence)	SCN9A	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Paroxysmal extreme pain disorder, 167400 Erythermalgia, primary, 133020 Erythermalgia, Primary Paroxysmal Extreme Pain Disorder Congenital Indifference to Pain Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Insensitivity to pain, channelopathy-associated, 243000 Dysosteosclerosis Hereditary Sensory Neuropathy Febrile seizures, familial, 3B, 613863 Tags
Red Red List (low evidence)	SCP2	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Leukoencephalopathy with dystonia and motor neuropathy, 613724 ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 Tags
Red Red List (low evidence)	SDHA	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Cardiomyopathy, dilated, 1GG, 613642 Leigh syndrome, 256000 Mitochondrial respiratory chain complex II deficiency, 252011 Tags
Red Red List (low evidence)	SDHAF1	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Mitochondrial complex II deficiency, 252011 Dystonia Tags
Red Red List (low evidence)	SERAC1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 Tags
Red Red List (low evidence)	SLC1A3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes EPISODIC ATAXIA, TYPE 6 Tags
Red Red List (low evidence)	SLC25A19	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710 Microcephaly, Amish type 607196 Tags
Red Red List (low evidence)	SLC39A14	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Hypermanganesemia with dystonia 2 Tags
Red Red List (low evidence)	SLC41A1	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Parkinson disease (Yan (2011) Int J Neurosci 121,632) Tags
Red Red List (low evidence)	SLC46A1	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Folate malabsorption, hereditary, 229050 Dystonia Tags
Red Red List (low evidence)	SLC6A3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Parkinsonism-dystonia, infantile, 613135 Tags
Red Red List (low evidence)	SLC6A5	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Hyperekplexia 3, 614618 Tags
Red Red List (low evidence)	SNCAIP	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Parkinson Disease, Dominant/Recessive Tags
Red Red List (low evidence)	SUCLA2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Tags
Red Red List (low evidence)	SUCLG1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 Tags
Red Red List (low evidence)	SUOX	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Sulfite oxidase deficiency, 272300 Dystonia Tags
Red Red List (low evidence)	SURF1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Charcot-Marie-Tooth disease, type 4K, 616684 Leigh syndrome, due to COX IV deficiency, 256000 Tags
Red Red List (low evidence)	TBP	3 reviews 2 red	Other	Sources Expert Review Red NHS GMS South West GLH Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	TH	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Segawa syndrome paediatric form of dopa responsive dystonia infantile parkinsonism DOPA-responsive dystonia Segawa syndrome, recessive, 605407 Tags
Red Red List (low evidence)	TPK1	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 Dystonia Tags
Red Red List (low evidence)	TREM2	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 Frontotemporal dementia Alzheimers disease Dystonia Tags
Red Red List (low evidence)	TREX1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315 Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 Dystonia Tags
Red Red List (low evidence)	TUBA1A	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes Lissencephaly 3 611603 Tags
Red Red List (low evidence)	VAC14	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Striatonigral degeneration, childhood-onset Tags
Red Red List (low evidence)	VPS37A	2 reviews 2 red	Not set	Sources Expert Review Red NHS GMS South West GLH Phenotypes Spastic paraplegia 53, autosomal recessive, 614898 Dystonia Tags
Red Red List (low evidence)	WDR73	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Galloway-Mowat syndrome 1, 251300 Tags
No list No list	HTT_CAG STR	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed London North GLH NHS GMS Phenotypes Huntington disease, OMIM:143100 Tags curated_removed STR

Major version comments

2023-03-22 15:49 Catherine Snow (Genomics England) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2022-11-30 14:39 Arina Puzriakova (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-11-29 12:31 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.128) was signed off under NHS Genomic Medicine Service governance on (29/11/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Adult onset dystonia, chorea or related movement disorder (Version 3.18)

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2 reviews

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2 reviews

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Phenotypes

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2 reviews

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Phenotypes

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5 reviews

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Phenotypes

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5 reviews

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Phenotypes

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4 reviews

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Phenotypes

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3 reviews

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Phenotypes

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2 reviews

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Phenotypes

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2 reviews

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Phenotypes

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4 reviews

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Phenotypes

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2 reviews

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Phenotypes

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2 reviews

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Phenotypes

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