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
AFG3L2	gene	AFG3L2	Expert list;Expert Review Amber	Dystonia and Chorea		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spastic ataxia 5, autosomal recessive MIM#614487;Early-onset dystonia			Dystonia;HP:0001332; Chorea;HP:0002072	22964162;16541453;32219868;36110148		False	2	33;0;67	0.346	True		ENSG00000141385	ENSG00000141385	HGNC:315													
ALK	gene	ALK	Expert Review Amber;Literature	Dystonia and Chorea		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spastic-dystonic diplegia			Dystonia;HP:0001332; Chorea;HP:0002072	PMID: 32989326		False	2	0;100;0	0.346	True		ENSG00000171094	ENSG00000171094	HGNC:427													
ARFGEF3	gene	ARFGEF3	Expert Review Amber;Literature	Dystonia and Chorea		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dystonia, MONDO:0044807, ARFGEF3-related			Dystonia;HP:0001332; Chorea;HP:0002072	PMID: 33098801		False	2	50;50;0	0.346	False		ENSG00000112379	ENSG00000112379	HGNC:21213													
ATP5B	gene	ATP5B	Expert Review Amber;Literature	Dystonia and Chorea		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dystonia 38, susceptibility to, MIM# 621502			Dystonia;HP:0001332; Chorea;HP:0002072	36860166;40276935		False	2	50;50;0	0.346	True		ENSG00000110955	ENSG00000110955	HGNC:830													
CHD8	gene	CHD8	Expert Review Amber;Literature	Dystonia and Chorea		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder, CHD8-related, MIM#615032;Dystonia			Dystonia;HP:0001332; Chorea;HP:0002072	34415117		False	2	0;100;0	0.346	True		ENSG00000100888	ENSG00000100888	HGNC:20153													
CIZ1	gene	CIZ1	Expert Review Amber;Royal Melbourne Hospital	Dystonia and Chorea		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dystonia 23, 614860			Dystonia;HP:0001332; Chorea;HP:0002072	27163549;29154038;22447717		False	2	0;100;0	0.346	False		ENSG00000148337	ENSG00000148337	HGNC:16744													
COL6A3	gene	COL6A3	Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Dystonia and Chorea		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dystonia 27, MIM#616411			Dystonia;HP:0001332; Chorea;HP:0002072	26004199;32037012;26872670;32037012		False	2	50;50;0	0.346	False		ENSG00000163359	ENSG00000163359	HGNC:2213													
FBXL4	gene	FBXL4	Expert list;Expert Review Amber	Dystonia and Chorea		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471			Dystonia;HP:0001332; Chorea;HP:0002072			False	2	0;100;0	0.346	True		ENSG00000112234	ENSG00000112234	HGNC:13601													
HACE1	gene	HACE1	Expert list;Expert Review Amber	Dystonia and Chorea		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756			Dystonia;HP:0001332; Chorea;HP:0002072	26424145;26437029		False	2	0;100;0	0.346	True		ENSG00000085382	ENSG00000085382	HGNC:21033													
KCNQ2	gene	KCNQ2	Expert list;Expert Review Amber	Dystonia and Chorea		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epileptic encephalopathy, early infantile, 7 MIM#613720			Dystonia;HP:0001332; Chorea;HP:0002072	12742592;32585800		False	2	0;100;0	0.346	True		ENSG00000075043	ENSG00000075043	HGNC:6296													
KIF1C	gene	KIF1C	Expert list;Expert Review Amber	Dystonia and Chorea		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Spastic ataxia 2, autosomal recessive, MIM#	611302"			Dystonia;HP:0001332; Chorea;HP:0002072	31413903		False	2	0;100;0	0.346	True		ENSG00000129250	ENSG00000129250	HGNC:6317													
MAPT	gene	MAPT	Expert list;Expert Review Amber	Dystonia and Chorea		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dementia, frontotemporal, with or without parkinsonism MIM#600274			Dystonia;HP:0001332; Chorea;HP:0002072	17319286;15883319		False	2	0;100;0	0.346	True		ENSG00000186868	ENSG00000186868	HGNC:6893													
MRPS36	gene	MRPS36	Expert Review Amber;Literature	Dystonia and Chorea		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related			Dystonia;HP:0001332; Chorea;HP:0002072	PMID: 41018056;38685873		False	2	0;100;0	0.346	True		ENSG00000134056	ENSG00000134056	HGNC:16631													
MT-TC	gene	MT-TC	Expert list;Expert Review Amber	Dystonia and Chorea		Neurology and neurodevelopmental disorders	MITOCHONDRIAL	Mitochondrial disease (MONDO:0044970), MT-TC-related			Dystonia;HP:0001332; Chorea;HP:0002072	8829635;9185178;17241783;11453453;16955414;32169613;36039763;17724295;35252560;34433719;30030363		False	2	0;100;0	0.346	True		ENSG00000210140	ENSG00000210140	HGNC:7477													
NUP54	gene	NUP54	Expert Review Amber;Literature	Dystonia and Chorea		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dystonia 37, early-onset, with striatal lesions, MIM# 620427;Early onset dystonia;progressive neurological deterioration;ataxia;dysarthria;dysphagia;hypotonia			Dystonia;HP:0001332; Chorea;HP:0002072	36333996		False	2	0;100;0	0.346	True		ENSG00000138750	ENSG00000138750	HGNC:17359													
SAMHD1	gene	SAMHD1	Expert list;Expert Review Amber	Dystonia and Chorea		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 5 MIM#612952			Dystonia;HP:0001332; Chorea;HP:0002072	20131292		False	2	0;100;0	0.346	True		ENSG00000101347	ENSG00000101347	HGNC:15925													
VAMP1	gene	VAMP1	Expert list;Expert Review Amber	Dystonia and Chorea		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Spastic ataxia 1, autosomal dominant, MIM#	108600"			Dystonia;HP:0001332; Chorea;HP:0002072	22958904		False	2	0;100;0	0.346	True		ENSG00000139190	ENSG00000139190	HGNC:12642