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
ABAT	gene	ABAT	Expert Review Amber;Literature	Paroxysmal Dyskinesia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	GABA-transaminase deficiency, MIM# 613163;intellectual disability;autism;DEE;epilepsy;paroxysmal dyskinesia			Paroxysmal dyskinesia;HP:0007166	30617166		False	2	0;100;0	0.141	True		ENSG00000183044	ENSG00000183044	HGNC:23													
ATP7B	gene	ATP7B	Expert Review Amber;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services	Paroxysmal Dyskinesia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Wilson disease, MIM# 277900			Paroxysmal dyskinesia;HP:0007166	32662046		False	2	0;100;0	0.141	True		ENSG00000123191	ENSG00000123191	HGNC:870													
CACNB4	gene	CACNB4	Expert Review Amber;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services	Paroxysmal Dyskinesia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Episodic ataxia, type 5, MIM#613855			Paroxysmal dyskinesia;HP:0007166	10762541;9628818;27003325		False	2	0;100;0	0.141	True		ENSG00000182389	ENSG00000182389	HGNC:1404													
JPH3	gene	JPH3	Expert Review Amber;Literature	Paroxysmal Dyskinesia		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	paroxysmal dystonia, intellectual disability			Paroxysmal dyskinesia;HP:0007166	PMID: 36273396		False	2	50;50;0	0.141	True		ENSG00000154118	ENSG00000154118	HGNC:14203													
NBEA	gene	NBEA	Expert Review Amber;Literature	Paroxysmal Dyskinesia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157;Paroxysmal Kinesigenic Dyskinesia;DEE;autism;intellectual disability			Paroxysmal dyskinesia;HP:0007166	33692494		False	2	0;100;0	0.141	True		ENSG00000172915	ENSG00000172915	HGNC:7648													
PRKN	gene	PRKN	Expert Review Amber;Literature	Paroxysmal Dyskinesia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Parkinson disease, juvenile, type 2 MIM#600116;paroxysmal exercise induced dyskinesia;fasting induced dyskinesia;early onset parkinsonism			Paroxysmal dyskinesia;HP:0007166	37205242		False	2	0;100;0	0.141	True		ENSG00000185345	ENSG00000185345	HGNC:8607													
SHQ1	gene	SHQ1	Expert Review Amber;Literature	Paroxysmal Dyskinesia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with dystonia and seizures, MIM# 619922			Paroxysmal dyskinesia;HP:0007166	36847845		False	2	50;50;0	0.141	True		ENSG00000144736	ENSG00000144736	HGNC:25543													
SPR	gene	SPR	Expert Review Amber;Royal Children's Hospital Neurology Department;Victorian Clinical Genetics Services	Paroxysmal Dyskinesia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994			Paroxysmal dyskinesia;HP:0007166	32591469		False	2	0;100;0	0.141	True		ENSG00000116096	ENSG00000116096	HGNC:11257													
XPR1	gene	XPR1	Expert Review Amber;Literature	Paroxysmal Dyskinesia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Basal ganglia calcification, idiopathic, 6, MIM# 616413;brain calcification;basal ganglia calcification;paroxysmal dyskinesia;epilepsy;DEE			Paroxysmal dyskinesia;HP:0007166	33433330		False	2	0;100;0	0.141	True		ENSG00000143324	ENSG00000143324	HGNC:12827