Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ARX	gene	ARX	Expert Review Amber;NHS GMS;South West GLH	Adult onset dystonia, chorea or related movement disorder		Neurology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Developmental and epileptic encephalopathy 1, OMIM:308350;X-linked spasticity-intellectual disability-epilepsy syndromeMONDO:0017856;Partington syndrome, OMIM:309510;Partington syndrome, MONDO:0010654				29343471;17664398;26029707;31324350;29778428;23657928		False	2	0;100;0	5.5	False	Other	ENSG00000004848	ENSG00000004848	HGNC:18060													
AUH	gene	AUH	Expert Review Amber;NHS GMS;South West GLH	Adult onset dystonia, chorea or related movement disorder		Neurology		3-methylglutaconic aciduria, type I, OMIM:250950;Dystonia						False	2	0;100;0	5.5	False		ENSG00000148090	ENSG00000148090	HGNC:890													
CHCHD2	gene	CHCHD2	Expert Review Amber;London North GLH;NHS GMS;South West GLH	Adult onset dystonia, chorea or related movement disorder		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Parkinson disease 22, autosomal dominant, OMIM:616710				Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015;26067110;26067114;25662902		False	2	0;67;33	5.5	False		ENSG00000106153	ENSG00000106153	HGNC:21645													
CIZ1	gene	CIZ1	Expert Review Amber;London North GLH;NHS GMS;South West GLH	Adult onset dystonia, chorea or related movement disorder		Neurology		Dystonia 23, 614860				22447717		False	2	0;67;33	5.5	False		ENSG00000148337	ENSG00000148337	HGNC:16744													
DDC	gene	DDC	Expert Review Amber;NHS GMS;South West GLH	Adult onset dystonia, chorea or related movement disorder		Neurology	BIALLELIC, autosomal or pseudoautosomal	Aromatic L-amino acid decarboxylase deficiency, OMIM:608643;Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084				19172410		False	2	0;100;0	5.5	False		ENSG00000132437	ENSG00000132437	HGNC:2719													
EIF4G1	gene	EIF4G1	Expert Review Amber;NHS GMS;South West GLH	Adult onset dystonia, chorea or related movement disorder		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Parkinsons disease 18, 614251				25368108		False	2	0;100;0	5.5	False		ENSG00000114867	ENSG00000114867	HGNC:3296													
FOXG1	gene	FOXG1	Expert Review Amber;NHS GMS;South West GLH	Adult onset dystonia, chorea or related movement disorder		Neurology		Rett Syndrome, congenital variant, 613454;Dystonia				27029630;29086067		False	2	0;100;0	5.5	False		ENSG00000176165	ENSG00000176165	HGNC:3811													
GLB1	gene	GLB1	Expert Review;Expert Review Amber	Adult onset dystonia, chorea or related movement disorder		Neurology	BIALLELIC, autosomal or pseudoautosomal	GM1-gangliosidosis, type III, 230650				1909089;1907800;8198123		False	2	100;0;0	5.5	False		ENSG00000170266	ENSG00000170266	HGNC:4298													
PDE2A	gene	PDE2A	Expert Review Amber;London North GLH;NHS GMS	Adult onset dystonia, chorea or related movement disorder		Neurology	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder with paroxysmal dyskinesia or seizures, OMIM:619150						False	2	50;50;0	5.5	False		ENSG00000186642	ENSG00000186642	HGNC:8777													
PLP1	gene	PLP1	Expert Review Amber;NHS GMS;South West GLH	Adult onset dystonia, chorea or related movement disorder		Neurology		Pelizaeus-Merzbacher disease, 312080;Spastic paraplegia 2, X-linked, 312920;Dystonia				30046645;11093273		False	2	0;100;0	5.5	False		ENSG00000123560	ENSG00000123560	HGNC:9086													
PTS	gene	PTS	Expert Review Amber;NHS GMS;South West GLH	Adult onset dystonia, chorea or related movement disorder		Neurology		Hyperphenylalaninemia, BH4-deficient, A, 261640;Dystonia				26919687		False	2	0;100;0	5.5	False		ENSG00000150787	ENSG00000150787	HGNC:9689													
QDPR	gene	QDPR	Expert Review Amber;NHS GMS;South West GLH	Adult onset dystonia, chorea or related movement disorder		Neurology	BIALLELIC, autosomal or pseudoautosomal	Hyperphenylalaninemia, BH4-deficient, C, 261630;Dystonia				19491146;26919687;10677304		False	2	0;100;0	5.5	False		ENSG00000151552	ENSG00000151552	HGNC:9752													
TAF1	gene	TAF1	Expert Review Amber;London North GLH;NHS GMS;South West GLH	Adult onset dystonia, chorea or related movement disorder		Neurology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Dystonia-Parkinsonism, X-linked, OMIM:314250				26637982;23184149;17668393;17273961;26769797;2368812;20301662;26879577;http://www.ncbi.nlm.nih.gov/books/NBK1155/;12928496		False	2	33;67;0	5.5	False	Other - please provide details in the comments	ENSG00000147133	ENSG00000147133	HGNC:11535													
UCHL1	gene	UCHL1	Expert Review Amber;NHS GMS;South West GLH	Adult onset dystonia, chorea or related movement disorder		Neurology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	{?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				28007905;23359680;29735986;10048490;35986737		False	2	0;100;0	5.5	False		ENSG00000154277	ENSG00000154277	HGNC:12513													
VAMP2	gene	VAMP2	Expert Review Amber;London North GLH;NHS GMS	Adult onset dystonia, chorea or related movement disorder		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, OMIM:618760				30929742		False	2	50;50;0	5.5	False		ENSG00000220205	ENSG00000220205	HGNC:12643													
VPS41	gene	VPS41	Expert Review Amber;NHS GMS	Adult onset dystonia, chorea or related movement disorder		Neurology	BIALLELIC, autosomal or pseudoautosomal	Generalised Neurodevelopmental disorder;Ataxia;Dystonia				32808683;33764426;33851776		False	2	50;50;0	5.5	False		ENSG00000006715	ENSG00000006715	HGNC:12713													
YY1	gene	YY1	Expert Review Amber;London North GLH;NHS GMS	Adult onset dystonia, chorea or related movement disorder		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Gabriele-de Vries syndrome, OMIM:617557				28575647		False	2	0;100;0	5.5	False		ENSG00000100811	ENSG00000100811	HGNC:12856