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
BCKDHB	gene	BCKDHB	Expert list;Expert Review Green	Episodic Ataxia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Episodic ataxia during metabolic crises;paroxysmal nonkinesigenic dyskinesia			Ataxia;HP:0001251	PMID 32151765		False	3	0;0;0	1.1	True		ENSG00000083123	ENSG00000083123	HGNC:987													
CACNA1A	gene	CACNA1A	Expert list;Expert Review Green	Episodic Ataxia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Episodic ataxia, type 2 MIM#108500			Ataxia;HP:0001251			False	3	100;0;0	1.1	True		ENSG00000141837	ENSG00000141837	HGNC:1388													
FGF14	gene	FGF14	Expert Review Green;Literature	Episodic Ataxia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Episodic Ataxia type 9			Ataxia;HP:0001251	32162847		False	3	100;0;0	1.1	True		ENSG00000102466	ENSG00000102466	HGNC:3671													
KCNA1	gene	KCNA1	Expert list;Expert Review Green	Episodic Ataxia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Episodic ataxia/myokymia syndrome MIM#160120;EA1			Ataxia;HP:0001251	11026449		False	3	100;0;0	1.1	True	Other	ENSG00000111262	ENSG00000111262	HGNC:6218													
SLC1A3	gene	SLC1A3	Expert list;Expert Review Green	Episodic Ataxia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Episodic ataxia, type 6 MIM#612656			Ataxia;HP:0001251	16116111;23107647;19139306;29741614;25497598;29208948;29062094		False	3	100;0;0	1.1	True		ENSG00000079215	ENSG00000079215	HGNC:10941