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 Review Red;Royal Melbourne Hospital	Progressive Myoclonic Epilepsy		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome			Myoclonic seizure;HP:0032794			False	1	0;100;0	0.28	False		ENSG00000141385	ENSG00000141385	HGNC:315													
PRICKLE1	gene	PRICKLE1	Expert Review Red;Royal Melbourne Hospital	Progressive Myoclonic Epilepsy		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 1B 612437			Myoclonic seizure;HP:0032794	18976727;30564977		False	1	0;0;100	0.28	True		ENSG00000139174	ENSG00000139174	HGNC:17019													
SLC7A6OS	gene	SLC7A6OS	Expert Review Red;Literature	Progressive Myoclonic Epilepsy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic, 12, MIM# 619191			Myoclonic seizure;HP:0032794	33085104		False	1	0;0;100	0.28	True		ENSG00000103061	ENSG00000103061	HGNC:25807