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
CACNA1B	gene	CACNA1B	Expert Review Red;Other	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myoclonus-dystonia syndrome MONDO:0000903			Dystonia;HP:0001332	25296916;26157024;35698023;33051750;35041927		False	1	0;0;100	1.183	True		ENSG00000148408	ENSG00000148408	HGNC:1389													
CHMP2B	gene	CHMP2B	Expert Review Red;Royal Melbourne Hospital	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	familial frontotemporal lobar degeneration (ALS17);Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;Dystonia			Dystonia;HP:0001332	20301378		False	1	0;0;100	1.183	True		ENSG00000083937	ENSG00000083937	HGNC:24537													
DCTN1	gene	DCTN1	Expert Review Red;Expert list	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Perry syndrome MIM#168605			Dystonia;HP:0001332	24343258		False	1	0;0;100	1.183	True		ENSG00000204843	ENSG00000204843	HGNC:2711													
DRD2	gene	DRD2	Expert Review Red;Literature	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Combined dystonia, MONDO:0020065, DRD2-related;dystonia;chorea;anxiety;ataxia;orofacial dyskinesia;tremor;memory problems			Dystonia;HP:0001332	33200438		False	1	100;0;0	1.183	True	Other	ENSG00000149295	ENSG00000149295	HGNC:3023													
EARS2	gene	EARS2	Expert Review Red;Expert list	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 12 MIM#614924			Dystonia;HP:0001332	22492562		False	1	0;0;100	1.183	True		ENSG00000103356	ENSG00000103356	HGNC:29419													
MAT1A	gene	MAT1A	Expert Review Red;Expert list	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850			Dystonia;HP:0001332	8770875		False	1	0;0;100	1.183	True		ENSG00000151224	ENSG00000151224	HGNC:6903													
MMADHC	gene	MMADHC	Expert Review Red;Expert list	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Homocystinuria, cblD type, variant 1 MIM#277410			Dystonia;HP:0001332	15292234;18385497		False	1	0;0;100	1.183	True		ENSG00000168288	ENSG00000168288	HGNC:25221													
MOGS	gene	MOGS	Expert Review Red;Expert Review	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIb, MIM# 606056			Dystonia;HP:0001332	33058492		False	1	0;0;100	1.183	True		ENSG00000115275	ENSG00000115275	HGNC:24862													
MPV17	gene	MPV17	Expert Review Red;Expert list	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810			Dystonia;HP:0001332	29282788		False	1	0;0;100	1.183	True		ENSG00000115204	ENSG00000115204	HGNC:7224													
PDGFRB	gene	PDGFRB	Expert Review Red;Royal Melbourne Hospital	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Basal ganglia calcification, idiopathic, 4, MIM# 615007			Dystonia;HP:0001332	24518837		False	1	0;0;100	1.183	True		ENSG00000113721	ENSG00000113721	HGNC:8804													
PLP1	gene	PLP1	Expert Review Red;Expert list	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Pelizaeus-Merzbacher disease MIM#312080			Dystonia;HP:0001332	30046645;19396823		False	1	0;0;100	1.183	True		ENSG00000123560	ENSG00000123560	HGNC:9086													
PODXL	gene	PODXL	Expert Review Red;Expert list	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	juvenile-onset Parkinson disease			Dystonia;HP:0001332	26864383		False	1	0;0;100	1.183	True		ENSG00000128567	ENSG00000128567	HGNC:9171													
RELN	gene	RELN	Expert Review Red;Other	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Myoclonus-dystonia syndrome MONDO:0000903			Dystonia;HP:0001332	32334381;25648840		False	1	0;0;100	1.183	True		ENSG00000189056	ENSG00000189056	HGNC:9957													
RNASEH2A	gene	RNASEH2A	Expert Review Red;Expert list	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 4 MIM#610333			Dystonia;HP:0001332	20131292		False	1	0;0;100	1.183	True		ENSG00000104889	ENSG00000104889	HGNC:18518													
SLC20A2	gene	SLC20A2	Expert Review Red;Expert list	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Basal ganglia calcification, idiopathic, 1, MIM# 213600;Paroxysmal kinesigenic dyskinesia			Dystonia;HP:0001332	22327515;23334463;24411498		False	1	0;0;100	1.183	True		ENSG00000168575	ENSG00000168575	HGNC:10947													
TOR1AIP1	gene	TOR1AIP1	Expert Review Red;Royal Melbourne Hospital	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dystonia, cerebellar atrophy, and cardiomyopathy			Dystonia;HP:0001332	25425325		False	1	0;0;100	1.183	True		ENSG00000143337	ENSG00000143337	HGNC:29456													
UBR4	gene	UBR4	Expert Review Red;Expert list	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	early onset episodic ataxia;nystagmus;myokymia;tremor			Dystonia;HP:0001332	23982692;29062094		False	1	0;0;100	1.183	True		ENSG00000127481	ENSG00000127481	HGNC:30313													
UNC80	gene	UNC80	Expert Review Red;Expert list	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801;MONDO:0014777			Dystonia;HP:0001332	26545877		False	1	0;0;100	1.183	True		ENSG00000144406	ENSG00000144406	HGNC:26582													
VPS11	gene	VPS11	Expert Review Red;Literature	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dystonia 32, MIM# 619637;Dystonia, adult-onset			Dystonia;HP:0001332	33452836		False	1	0;0;100	1.183	True		ENSG00000160695	ENSG00000160695	HGNC:14583													
VPS37A	gene	VPS37A	Expert Review Red;Expert list	Dystonia_Superpanel		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 53, autosomal recessive MIM#614898			Dystonia;HP:0001332	22717650		False	1	0;0;100	1.183	True		ENSG00000155975	ENSG00000155975	HGNC:24928