Dystonia_Superpanel (Version 1.183)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 249 Entitiess
Green List (high evidence)	ACBD6 Dystonia - complex v0.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785 Tags
Green List (high evidence)	ACTB Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Baraitser-Winter syndrome 1, 243310 Dystonia, juvenile-onset, 607371 Tags
Green List (high evidence)	ADAR Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes dystonia Aicardi-Goutieres syndrome 6, 615010 Tags
Green List (high evidence)	ADCY5 Paroxysmal Dyskinesia v0.141	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Dyskinesia, familial, with facial myokymia, MIM# 606703 MONDO:0011707 Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651 Tags
Green List (high evidence)	ADCY5 Dystonia - isolated/combined v1.37	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dyskinesia, familial, with facial myokymia, MIM# 606703 MONDO:0011707 Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651 Tags
Green List (high evidence)	ALDH5A1 Paroxysmal Dyskinesia v0.141	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green List (high evidence)	ANO3 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia 24, 615034 familial form of cranio-cervical dystonia Tags
Green List (high evidence)	APTX Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia-oculomotor apraxia type 1 Dystonia Tags
Green List (high evidence)	ARFGEF3 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia, MONDO:0044807, ARFGEF3-related Tags
Green List (high evidence)	ARSA Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Metachromatic leukodystrophy, MIM#250100 Tags clinical trial treatable
Green List (high evidence)	ARX Dystonia - complex v0.272	1 review 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 Royal Melbourne Hospital Phenotypes Partington syndrome, MIM# 309510 Dystonia Tags
Green List (high evidence)	ATAD1 Paroxysmal Dyskinesia v0.141	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperekplexia 4, MIM#618011 Tags
Green List (high evidence)	ATM Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia telangiectasia Dystonia Tags
Green List (high evidence)	ATP13A2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Kufor-Rakeb syndrome MIM#606693 Tags
Green List (high evidence)	ATP1A2 Paroxysmal Dyskinesia v0.141	0 reviews	Unknown	Sources Royal Children's Hospital Neurology Department Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	ATP1A3 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia-12, MIM# 128235 Rapid dystonia-parkinsonism MONDO:0007496 Tags
Green List (high evidence)	ATP1A3 Paroxysmal Dyskinesia v0.141	0 reviews	Unknown	Sources Royal Children's Hospital Neurology Department Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	ATP2B2 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related Tags
Green List (high evidence)	ATP5G3 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia, early-onset, and/or spastic paraplegia, MIM# 619681 Tags
Green List (high evidence)	ATP7B Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Wilson disease, MIM# 277900 Dystonia Tags
Green List (high evidence)	AUH Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes 3-Methylglutaconic aciduria type 1 Dystonia Tags
Green List (high evidence)	BCAP31 Dystonia - complex v0.272	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Deafness, dystonia and cerebellar hypomyelination, MIM#300475 Tags
Green List (high evidence)	C19orf12 Dystonia - complex v0.272	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes neurodegeneration with brain iron accumulation 4 MONDO:0013674 Tags
Green List (high evidence)	C9orf3 Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia 31, MIM# 619565 Tags new gene name
Green List (high evidence)	CACNA1A Paroxysmal Dyskinesia v0.141	0 reviews	Unknown	Sources Royal Children's Hospital Neurology Department Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CACNA1A Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Episodic ataxia, type 2 MIM#108500 Spinocerebellar ataxia 6 MIM#183086 Tags
Green List (high evidence)	CACNA1G Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM# 618087 Tags
Green List (high evidence)	CACNA1S Paroxysmal Dyskinesia v0.141	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Hypokalemic periodic paralysis, type 1, MIM# 170400 Tags
Green List (high evidence)	CAMK4 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Intellectual disability Autism Behavioral abnormality Abnormality of movement Dystonia Ataxia Chorea Myoclonus Tags
Green List (high evidence)	CASR Paroxysmal Dyskinesia v0.141	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypocalciuric hypercalcemia, type I, MIM# 145980 Hypocalciuric Hypercalcemic Hyperparathyroidism paroxysmal dyskinesia brain calcification Tags
Green List (high evidence)	CLCN1 Paroxysmal Dyskinesia v0.141	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Myotonia congenita, dominant, MIM# 160800 Myotonia congenita, recessive, MIM# 255700 Tags
Green List (high evidence)	CLDN5 Paroxysmal Dyskinesia v0.141	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic disorder, MONDO:0002254, CLDN5-related familial migraine alternating hemiplegia hemiplegic migraine brain calcification acquired microcephaly epilepsy Tags
Green List (high evidence)	CLN3 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 3 204200 Tags
Green List (high evidence)	COASY Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes neurodegeneration with brain iron accumulation 6, MONDO:0014290 Neurodegeneration with brain iron accumulation 6 615643 Tags
Green List (high evidence)	COQ8A Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Coenzyme Q10 deficiency, primary, 4, MIM# 612016 Tags treatable
Green List (high evidence)	CP Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Aceruloplasminaemia, MIM#604290 Tags
Green List (high evidence)	CYP27A1 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebrotendinous xanthomatosis, MIM# 213700 Cholestanol storage disease Dystonia Tags
Green List (high evidence)	DCAF17 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Woodhouse-Sakati syndrome MONDO:0009419 Dystonia Tags
Green List (high evidence)	DDC Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 Dystonia Tags clinical trial treatable
Green List (high evidence)	DLAT Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pyruvate dehydrogenase E2 deficiency 245348 Dystonia Tags
Green List (high evidence)	DLAT Paroxysmal Dyskinesia v0.141	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pyruvate dehydrogenase E2 deficiency, MIM# 245348 Episodic dystonia (Exercise induced or without clear trigger) Tags
Green List (high evidence)	DNAJC12 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 Tags
Green List (high evidence)	ECHS1 Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 616277 Dystonia Tags
Green List (high evidence)	ECHS1 Paroxysmal Dyskinesia v0.141	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease) Tags
Green List (high evidence)	ECHS1 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 Tags
Green List (high evidence)	EIF2AK2 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Intellectual disability white matter abnormalities ataxia regression with febrile illness early onset dystonia Tags
Green List (high evidence)	EIF2AK2 Dystonia - isolated/combined v1.37	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Dystonia 33, MIM# 619687 Tags
Green List (high evidence)	EIF4A2 Dystonia - complex v0.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455 Tags
Green List (high evidence)	FA2H Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia Spastic paraplegia 35, autosomal recessive 612319 fatty acid hydroxylase-associated neurodegeneration Tags
Green List (high evidence)	FBXO28 Dystonia - complex v0.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 100, MIM# 619777 Tags
Green List (high evidence)	FBXO7 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes juvenile parkinsonism Dystonia Tags
Green List (high evidence)	FITM2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Siddiqi syndrome MIM#618635 dystonia deafness Tags
Green List (high evidence)	FOXG1 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Rett syndrome, congenital variant Dystonia Tags
Green List (high evidence)	FTDALS STR Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags
Green List (high evidence)	FTL Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodegeneration with brain iron accumulation 3, MIM# 606159 Tags
Green List (high evidence)	FUCA1 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Fucosidosis, MIM#230000 Tags
Green List (high evidence)	GABRB2 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631 Tags
Green List (high evidence)	GABRB3 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 43 MIM#617113 Tags
Green List (high evidence)	GABRB3 Paroxysmal Dyskinesia v0.141	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 43 MIM#617113 Tags
Green List (high evidence)	GALT Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Galactosemia, MIM#230400 Tags treatable
Green List (high evidence)	GAMT Dystonia - complex v0.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebral creatine deficiency syndrome 2 MIM#612736 Tags treatable
Green List (high evidence)	GBA Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Gaucher disease, type III, MIM# 231000 Tags
Green List (high evidence)	GCDH Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes glutaryl-CoA dehydrogenase deficiency MONDO:0009281 Tags treatable
Green List (high evidence)	GCH1 Dystonia - isolated/combined v1.37	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Tags
Green List (high evidence)	GCH1 Paroxysmal Dyskinesia v0.141	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dopa-responsive dystonia exercise-induced dystonia Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230 Tags
Green List (high evidence)	GJC2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 2, MIM# 608804 Tags
Green List (high evidence)	GLB1 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes GM1 gangliosidosis type 3 MONDO:0009262 Tags
Green List (high evidence)	GLRA1 Paroxysmal Dyskinesia v0.141	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Hyperekplexia 1, MIM# 149400 Tags
Green List (high evidence)	GLRB Paroxysmal Dyskinesia v0.141	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Hyperekplexia 2, MIM# 614619 Tags
Green List (high evidence)	GM2A Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes GM2-gangliosidosis, AB variant, MIM#272750 Tags
Green List (high evidence)	GNAL Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia 25, MIM# 615073 MONDO:0014033 Tags
Green List (high evidence)	GNAO1 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodevelopmental disorder with involuntary movements, 617493 Tags
Green List (high evidence)	GNAO1 Paroxysmal Dyskinesia v0.141	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 17 Neurodevelopmental disorder with involuntary movements Tags
Green List (high evidence)	GNB1 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mental retardation, autosomal dominant 42, MIM# 616973 Myoclonus dystonia Tags
Green List (high evidence)	GRIN1 Dystonia - complex v0.272	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 Tags
Green List (high evidence)	GRN Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM#607485 Tags
Green List (high evidence)	GTPBP2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Jaberi-Elahi syndrome, MIM#617988 Tags
Green List (high evidence)	HIBCH Paroxysmal Dyskinesia v0.141	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620 Paroxysmal dyskinesia (exercise induced or without clear trigger isolated or with additional features mitochondrial disorder (Leigh syndrome) neurodevelopmental disability epilepsy. Tags
Green List (high evidence)	HIBCH Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620 Tags
Green List (high evidence)	HPCA Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia 2, torsion, autosomal recessive, 224500 MONDO:0009141 childhood-onset generalized dystonia adolescence-onset segmental dystonia generalized dystonia with additional neurological features Tags
Green List (high evidence)	HPRT1 Dystonia - complex v0.272	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Lesch-Nyhan syndrome Dystonia Tags
Green List (high evidence)	HTRA2 Dystonia - complex v0.272	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes 3-methylglutaconic aciduria type 8 MONDO:0044723 Tags
Green List (high evidence)	IMPDH2 Dystonia - complex v0.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dystonia Tags
Green List (high evidence)	IRF2BPL Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088 Tags
Green List (high evidence)	KCNA1 Paroxysmal Dyskinesia v0.141	0 reviews	Unknown	Sources Royal Children's Hospital Neurology Department Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	KCNA2 Paroxysmal Dyskinesia v0.141	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Episodic ataxia Epileptic encephalopathy, early infantile, 32, MIM# 616366 Tags
Green List (high evidence)	KCNJ10 Paroxysmal Dyskinesia v0.141	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Paroxysmal dyskinesia, MONDO:0015427, KCNJ10-related Tags
Green List (high evidence)	KCNJ2 Paroxysmal Dyskinesia v0.141	0 reviews	Unknown	Sources Royal Children's Hospital Neurology Department Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	KCNMA1 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy MIM#609446 Tags
Green List (high evidence)	KCNMA1 Paroxysmal Dyskinesia v0.141	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446 Tags
Green List (high evidence)	KCNN2 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia 34, myoclonic, MIM#619724 Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Tags
Green List (high evidence)	KCNQ2 Paroxysmal Dyskinesia v0.141	0 reviews	Unknown	Sources Royal Children's Hospital Neurology Department Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	KCNQ3 Paroxysmal Dyskinesia v0.141	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Seizures, benign neonatal, 2, MIM# 121201 Tags
Green List (high evidence)	KCTD17 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia 26, myoclonic MIM#616398 Tags
Green List (high evidence)	KIAA1161 Paroxysmal Dyskinesia v0.141	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317 paroxysmal dyskinesia brain calcification episodic hemiparesis Tags
Green List (high evidence)	KIF1A Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia spastic paraplegia intellectual disability Tags
Green List (high evidence)	KMT2B Dystonia - isolated/combined v1.37	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes early-onset dystonia Dystonia 28, childhood-onset 617284 MONDO:0015004 Tags
Green List (high evidence)	L2HGDH Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes L-2-hydroxyglutaric aciduria MIM#236792 Tags
Green List (high evidence)	MARS2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic ataxia 3, autosomal recessive MIM#611390 Tags SV/CNV
Green List (high evidence)	MECR Dystonia - complex v0.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282 MONDO:0015003 Tags
Green List (high evidence)	MECR Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282 MONDO:0015003 Tags
Green List (high evidence)	MED27 Dystonia - complex v0.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability cerebellar hypoplasia dystonia Tags
Green List (high evidence)	NIT1 Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrovascular disorder, NIT1-related (MONDO:0011057) Tags
Green List (high evidence)	NKX2-1 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Chorea, hereditary benign MIM#118700 Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 Tags
Green List (high evidence)	NKX6-2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560 Tags
Green List (high evidence)	NPC1 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Niemann-Pick disease, type C1 MONDO:0009757 Tags
Green List (high evidence)	NPC2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Niemann-Pick disease, type C2 MONDO:0011873 Dystonia Tags
Green List (high evidence)	NR4A2 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911 Tags
Green List (high evidence)	OPA3 Dystonia - complex v0.272	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 3-methylglutaconic aciduria, type III, MIM# 258501 developmental delay, hypotonia dystonia and chorea ataxia, optic atrophy spastic paraplegia Tags
Green List (high evidence)	PANK2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes pantothenate kinase-associated neurodegeneration MONDO:0009319 Dystonia Tags
Green List (high evidence)	PARK7 Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Parkinson disease 7, autosomal recessive early-onset MIM#606324 Tags
Green List (high evidence)	PCCA Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Propionicacidemia, MIM# 606054 Tags treatable
Green List (high evidence)	PCCB Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Propionicacidemia, MIM# 606054 Tags treatable
Green List (high evidence)	PDE10A Dystonia - isolated/combined v1.37	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Early onset chorea without epilepsy infantile onset limb and orofacial dyskinesia (OMIM 616921) Tags
Green List (high evidence)	PDE2A Paroxysmal Dyskinesia v0.141	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Paroxysmal dyskinesia Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150 Tags
Green List (high evidence)	PDGFB Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Basal ganglia calcification, idiopathic, 5 615483 Tags
Green List (high evidence)	PDGFB Paroxysmal Dyskinesia v0.141	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Basal ganglia calcification, idiopathic, 5, MIM# 615483 Paroxysmal nonkinesigenic dyskinesia paroxysmal kinesigenic dyskinesia Brain calcification Tags
Green List (high evidence)	PDHA1 Dystonia - complex v0.272	1 review 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 Literature Phenotypes Pyruvate dehydrogenase E1-alpha deficiency MIM#312170 Tags
Green List (high evidence)	PDHA1 Paroxysmal Dyskinesia v0.141	3 reviews 2 green	Other	Sources Expert Review Green Expert Review Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170 Paroxysmal dyskinesia (exercise induced or without clear trigger Tags
Green List (high evidence)	PDHX Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lacticacidemia due to PDX1 deficiency MIM#245349 Tags
Green List (high evidence)	PDHX Paroxysmal Dyskinesia v0.141	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lactic acidemia due to PDX1 deficiency, MIM# 245349 episodic dystonia Paroxysmal dyskinesia (exercise induced or without clear trigger isolated or with additional features) Tags
Green List (high evidence)	PINK1 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Parkinson disease 6, early onset Dystonia Tags
Green List (high evidence)	PLA2G6 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Parkinson disease 14, autosomal recessive 612953 PLA2G6-associated neurodegeneration Neurodegeneration with brain iron accumulation 2B 610217 Infantile neuroaxonal dystrophy 1 256600 Tags
Green List (high evidence)	PNKD Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800 MONDO:0007326 Tags
Green List (high evidence)	PNKD Paroxysmal Dyskinesia v0.141	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800 Tags
Green List (high evidence)	PNKP Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ataxia-oculomotor apraxia 4, MIM# 616267 Tags
Green List (high evidence)	PNPLA8 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Tags
Green List (high evidence)	POLR3A Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694 Striatal abnormalities Dystonia Tags
Green List (high evidence)	PRKN Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes juvenile parkinsonism/dystonia Parkinson disease, juvenile, type 2 Dystonia Tags
Green List (high evidence)	PRKRA Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia 16, MIM# 612067 MONDO:0012789 Tags founder
Green List (high evidence)	PRRT2 Paroxysmal Dyskinesia v0.141	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis 602066 Episodic kinesigenic dyskinesia 1 128200 Seizures, benign familial infantile, 2 605751 Tags
Green List (high evidence)	PRRT2 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Episodic kinesigenic dyskinesia 1, MIM# 128200 MONDO:0007494 Tags
Green List (high evidence)	PSEN1 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Frontotemporal dementia, MIM# 600274 Dystonia Tags
Green List (high evidence)	PTS Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 6-Pyruvoyltetrahydropterin Synthase Deficiency Dystonia Tags treatable
Green List (high evidence)	QDPR Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 Dihydropteridine reductase deficiency Dystonia Tags treatable
Green List (high evidence)	RHOBTB2 Dystonia - complex v0.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Epileptic encephalopathy, early infantile, 64, MIM# 618004 Dystonia, hypertonia, movement disorder truncal hypotonia hemiparesis developmental and epileptic encephalopathy Tags
Green List (high evidence)	RHOBTB2 Paroxysmal Dyskinesia v0.141	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Epileptic encephalopathy, early infantile, 64, MIM# 618004 Paroxysmal movement disorder Tags
Green List (high evidence)	RNASEH2B Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 2 MIM#610181 Tags
Green List (high evidence)	RNASEH2C Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 3 MIM#610329 Tags
Green List (high evidence)	RNU7-1 Dystonia - complex v0.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 9, MIM# 619487 Tags
Green List (high evidence)	SCN1A Paroxysmal Dyskinesia v0.141	0 reviews	Unknown	Sources Royal Children's Hospital Neurology Department Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SCN2A Paroxysmal Dyskinesia v0.141	0 reviews	Unknown	Sources Royal Children's Hospital Neurology Department Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SCN4A Paroxysmal Dyskinesia v0.141	0 reviews	Unknown	Sources Royal Children's Hospital Neurology Department Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SCN8A Paroxysmal Dyskinesia v0.141	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Complex neurodevelopmental disorder MONDO:0100038 Tags
Green List (high evidence)	SERAC1 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 Lesions in the basal ganglia Tags
Green List (high evidence)	SETX Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002 Tags
Green List (high evidence)	SGCE Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia-11, myoclonic, MIM# 159900 MONDO:0008044 Tags
Green List (high evidence)	SHQ1 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia 35, childhood-onset , MIM# 619921 Neurodevelopmental disorder with dystonia and seizures, MIM# 619922 Tags
Green List (high evidence)	SHQ1 Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia 35, childhood-onset , MIM# 619921 Tags
Green List (high evidence)	SLC16A2 Dystonia - complex v0.272	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523 Tags
Green List (high evidence)	SLC16A2 Paroxysmal Dyskinesia v0.141	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523 paroxysmal dyskinesia (passive movement trigger) neurodevelopmental disability, hypotonia Tags
Green List (high evidence)	SLC18A2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Parkinsonism-dystonia, infantile, 2, MIM# 618049 Tags
Green List (high evidence)	SLC19A3 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483 Dystonia Tags
Green List (high evidence)	SLC1A3 Paroxysmal Dyskinesia v0.141	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 6, MIM# 612656 Tags
Green List (high evidence)	SLC20A2 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Basal ganglia calcification, idiopathic, 1 213600 Dystonia Tags
Green List (high evidence)	SLC2A1 Paroxysmal Dyskinesia v0.141	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes GLUT1 deficiency syndrome MONDO:0000188 Tags
Green List (high evidence)	SLC2A1 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia 9, MIM# 601042 MONDO:0010983 Tags
Green List (high evidence)	SLC30A10 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 Tags
Green List (high evidence)	SLC30A9 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Birk-Landau-Perez syndrome (MIM#617595) Tags
Green List (high evidence)	SLC39A14 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypermanganesemia with dystonia 2 617013 Tags
Green List (high evidence)	SLC6A3 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dopamine transporter deficiency Parkinsonism-dystonia, infantile, 613135 Tags
Green List (high evidence)	SLC6A5 Paroxysmal Dyskinesia v0.141	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Hyperekplexia 3, MIM# 614618 Tags
Green List (high evidence)	SNORD118 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, brain calcifications, and cysts MIM#614561 Tags
Green List (high evidence)	SPATA5L1 Dystonia - complex v0.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616 Tags
Green List (high evidence)	SPR Dystonia - isolated/combined v1.37	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 MONDO:0012994 Tags
Green List (high evidence)	SQSTM1 Dystonia - complex v0.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 Tags
Green List (high evidence)	SUCLA2 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Dystonia Tags
Green List (high evidence)	SUOX Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Sulfite oxidase deficiency MIM#272300 Tags
Green List (high evidence)	SURF1 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leigh syndrome, due to COX IV deficiency, MIM# 256000 Tags
Green List (high evidence)	SYNJ1 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes juvenile Parkinsonism Parkinson disease 20, early-onset Tags
Green List (high evidence)	SYT1 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Baker-Gordon syndrome MIM#618218 Tags
Green List (high evidence)	TBC1D24 Paroxysmal Dyskinesia v0.141	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105 Episodic dystonia (Exercise induced or without clear trigger) epilepsy myoclonus hearing loss Tags
Green List (high evidence)	TH Dystonia - isolated/combined v1.37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Segawa syndrome, recessive, MIM# 605407 MONDO:0011551 Tags
Green List (high evidence)	THAP1 Dystonia - isolated/combined v1.37	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dystonia 6, torsion, 602629 Dystonia MONDO:0011264 Tags
Green List (high evidence)	TIMM8A Dystonia - complex v0.272	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Deafness-Dystonia-Optic Neuronopathy Syndrome Mohr-Tranebjaerg syndrome, MIM# 304700 Tags
Green List (high evidence)	TMEM151A Paroxysmal Dyskinesia v0.141	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Paroxysmal Kinesigenic Dyskinesia episodic kinesigenic dyskinesia MONDO:0044202 Tags
Green List (high evidence)	TNPO2 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556 Tags
Green List (high evidence)	TOR1A Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Autosomal dominant or sporadic dystonia (DYT1) Early-Onset Primary Dystonia Dystonia-1, torsion, 128100 Tags
Green List (high evidence)	TPK1 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) Dystonia Tags
Green List (high evidence)	TREX1 Dystonia - complex v0.272	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive MIM#225750 Tags
Green List (high evidence)	TRPM3 Dystonia - complex v0.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224 Tags
Green List (high evidence)	TSPOAP1 Dystonia - complex v0.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia 22, MIM# 620453 Tags
Green List (high evidence)	TUBB4A Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes hereditary whispering dysphonia Dystonia 4, torsion, autosomal dominant, 128101 Dystonia Tags
Green List (high evidence)	UBTF Dystonia - complex v0.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701 Tags
Green List (high evidence)	VAC14 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Striatonigral degeneration, childhood-onset 617054 Tags
Green List (high evidence)	VAMP2 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760 Dystonia Cortical visual impairment Seizures Stereotypic behaviour Generalized hypotonia Intellectual disability Tags
Green List (high evidence)	VPS13A Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes complex parkinsonism Choreoacanthocytosis 200150 Tags
Green List (high evidence)	VPS13D Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317 Tags
Green List (high evidence)	VPS16 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia 30, MIM#619291 Tags
Green List (high evidence)	VPS16 Dystonia - isolated/combined v1.37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Dystonia 30, MIM#619291 Tags
Green List (high evidence)	VPS41 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia-29 (SCAR29), MIM#619389 Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay Tags
Green List (high evidence)	VPS4A Dystonia - complex v0.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes CIMDAG syndrome MIM# 619273 Tags
Green List (high evidence)	WARS2 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Parkinsonism-dystonia 3, childhood-onset, MIM# 619738 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710 Tags
Green List (high evidence)	WDR45 Dystonia - complex v0.272	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 Royal Melbourne Hospital Phenotypes Neurodegeneration with brain iron accumulation 5 300894 beta-propeller protein-associated neurodegeneration Dystonia Tags
Green List (high evidence)	WDR73 Dystonia - complex v0.272	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Galloway-Mowat syndrome 1, 251300 Tags
Green List (high evidence)	XDP STR Dystonia - isolated/combined v1.37	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Dystonia-Parkinsonism, X-linked MIM#314250 Tags founder
Green List (high evidence)	XK Dystonia - complex v0.272	1 review 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 Expert list Phenotypes McLeod syndrome with or without chronic granulomatous disease MIM#300842 Tags
Green List (high evidence)	YIF1B Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Kaya-Barakat-Masson syndrome, MIM# 619125 Central hypotonia Failure to thrive Microcephaly Global developmental delay Intellectual disability Seizures Spasticity Abnormality of movement Tags
Green List (high evidence)	YY1 Dystonia - complex v0.272	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Gabriele-de Vries syndrome 617557 Tags
Green List (high evidence)	ZNF526 Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 Tags
Amber List (moderate evidence)	ABAT Paroxysmal Dyskinesia v0.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes GABA-transaminase deficiency, MIM# 613163 intellectual disability autism DEE epilepsy paroxysmal dyskinesia Tags
Amber List (moderate evidence)	AFG3L2 Dystonia - complex v0.272	3 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic ataxia 5, autosomal recessive MIM#614487 Early-onset dystonia Tags
Amber List (moderate evidence)	ALK Dystonia - complex v0.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Spastic-dystonic diplegia Tags
Amber List (moderate evidence)	ATP5B Dystonia - isolated/combined v1.37	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Inherited dystonia, MONDO:0044807, ATP5B-related Tags
Amber List (moderate evidence)	ATP7B Paroxysmal Dyskinesia v0.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Wilson disease, MIM# 277900 Tags
Amber List (moderate evidence)	CACNB4 Paroxysmal Dyskinesia v0.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 5, MIM#613855 Tags
Amber List (moderate evidence)	CHD8 Dystonia - complex v0.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, CHD8-related, MIM#615032 Dystonia Tags
Amber List (moderate evidence)	CIZ1 Dystonia - isolated/combined v1.37	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Dystonia 23, 614860 Tags
Amber List (moderate evidence)	COL6A3 Dystonia - isolated/combined v1.37	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Dystonia 27, MIM#616411 Tags
Amber List (moderate evidence)	FBXL4 Dystonia - complex v0.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Tags
Amber List (moderate evidence)	GSX2 Dystonia - complex v0.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 2 618646 Intellectual disability Dystonia Spastic tetra paresis Tags
Amber List (moderate evidence)	HACE1 Dystonia - complex v0.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756 Tags
Amber List (moderate evidence)	JPH3 Paroxysmal Dyskinesia v0.141	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes paroxysmal dystonia, intellectual disability Tags
Amber List (moderate evidence)	KCNQ2 Dystonia - complex v0.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Epileptic encephalopathy, early infantile, 7 MIM#613720 Tags
Amber List (moderate evidence)	KIF1C Dystonia - complex v0.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic ataxia 2, autosomal recessive, MIM# 611302 Tags
Amber List (moderate evidence)	MAPT Dystonia - complex v0.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Dementia, frontotemporal, with or without parkinsonism MIM#600274 Tags
Amber List (moderate evidence)	NBEA Paroxysmal Dyskinesia v0.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157 Paroxysmal Kinesigenic Dyskinesia DEE autism intellectual disability Tags
Amber List (moderate evidence)	NUP54 Dystonia - complex v0.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dystonia 37, early-onset, with striatal lesions, MIM# 620427 Early onset dystonia progressive neurological deterioration ataxia dysarthria dysphagia hypotonia Tags
Amber List (moderate evidence)	PRKN Paroxysmal Dyskinesia v0.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Parkinson disease, juvenile, type 2 MIM#600116 paroxysmal exercise induced dyskinesia fasting induced dyskinesia early onset parkinsonism Tags
Amber List (moderate evidence)	SAMHD1 Dystonia - complex v0.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Aicardi-Goutieres syndrome 5 MIM#612952 Tags
Amber List (moderate evidence)	SHQ1 Paroxysmal Dyskinesia v0.141	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with dystonia and seizures, MIM# 619922 Tags
Amber List (moderate evidence)	SPR Paroxysmal Dyskinesia v0.141	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994 Tags
Amber List (moderate evidence)	VAMP1 Dystonia - complex v0.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Spastic ataxia 1, autosomal dominant, MIM# 108600 Tags founder
Amber List (moderate evidence)	XPR1 Paroxysmal Dyskinesia v0.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Basal ganglia calcification, idiopathic, 6, MIM# 616413 brain calcification basal ganglia calcification paroxysmal dyskinesia epilepsy DEE Tags
Red List (low evidence)	CACNA1B Dystonia - isolated/combined v1.37	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Myoclonus-dystonia syndrome MONDO:0000903 Tags
Red List (low evidence)	CHMP2B Dystonia - complex v0.272	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes familial frontotemporal lobar degeneration (ALS17) Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Dystonia Tags
Red List (low evidence)	DCTN1 Dystonia - complex v0.272	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Perry syndrome MIM#168605 Tags
Red List (low evidence)	DRD2 Dystonia - isolated/combined v1.37	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Combined dystonia, MONDO:0020065, DRD2-related dystonia chorea anxiety ataxia orofacial dyskinesia tremor memory problems Tags
Red List (low evidence)	EARS2 Dystonia - complex v0.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Combined oxidative phosphorylation deficiency 12 MIM#614924 Tags
Red List (low evidence)	MAT1A Dystonia - complex v0.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850 Tags
Red List (low evidence)	MMADHC Dystonia - complex v0.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Homocystinuria, cblD type, variant 1 MIM#277410 Tags
Red List (low evidence)	MOGS Dystonia - complex v0.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Congenital disorder of glycosylation, type IIb, MIM# 606056 Tags
Red List (low evidence)	MPV17 Dystonia - complex v0.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810 Tags
Red List (low evidence)	PDGFRB Dystonia - complex v0.272	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Basal ganglia calcification, idiopathic, 4, MIM# 615007 Tags
Red List (low evidence)	PLP1 Dystonia - complex v0.272	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Phenotypes Pelizaeus-Merzbacher disease MIM#312080 Tags
Red List (low evidence)	PODXL Dystonia - isolated/combined v1.37	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes juvenile-onset Parkinson disease Tags
Red List (low evidence)	RELN Dystonia - isolated/combined v1.37	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Myoclonus-dystonia syndrome MONDO:0000903 Tags
Red List (low evidence)	RNASEH2A Dystonia - complex v0.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Aicardi-Goutieres syndrome 4 MIM#610333 Tags
Red List (low evidence)	SLC20A2 Paroxysmal Dyskinesia v0.141	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Phenotypes Basal ganglia calcification, idiopathic, 1, MIM# 213600 Paroxysmal kinesigenic dyskinesia Tags
Red List (low evidence)	TOR1AIP1 Dystonia - complex v0.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Dystonia, cerebellar atrophy, and cardiomyopathy Tags
Red List (low evidence)	UBR4 Paroxysmal Dyskinesia v0.141	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes early onset episodic ataxia nystagmus myokymia tremor Tags
Red List (low evidence)	UNC80 Dystonia - complex v0.272	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777 Tags
Red List (low evidence)	VPS11 Dystonia - isolated/combined v1.37	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Dystonia 32, MIM# 619637 Dystonia, adult-onset Tags
Red List (low evidence)	VPS37A Dystonia - complex v0.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Spastic paraplegia 53, autosomal recessive MIM#614898 Tags
No list	C9orf72 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, MIM# 105550 Tags STR
No list	NAA15 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes dystonia neurodevelopmental delay Tags
No list	NACC1 Dystonia - complex v0.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes chorea dystonia epilepsy microcephaly cataracts dysautonomia iron deficiency anemia stereotypies Tags
No list	PAH Dystonia - complex v0.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes Phenylketonuria MIM#261600 Tags
No list	TAF1 Dystonia - isolated/combined v1.37	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Removed Royal Melbourne Hospital Phenotypes Dystonia-Parkinsonism, X-linked, 314250 (NB complex mutation) Tags deep intronic founder

Dystonia_Superpanel (Version 1.183)

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