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
CHRNA4	gene	CHRNA4	Expert Review Green;Literature	Familial Focal Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	600513				7550350		False	3	100;0;0	1.11	True		ENSG00000101204	ENSG00000101204	HGNC:1958													
CHRNB2	gene	CHRNB2	Expert Review Green;Literature	Familial Focal Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	605375				11062464		False	3	50;0;50	1.11	True		ENSG00000160716	ENSG00000160716	HGNC:1962													
CNTNAP2	gene	CNTNAP2	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Familial Focal Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cortical Dysplasia-Focal Epilepsy Syndrome 				16571880		False	3	0;0;0	1.11	True		ENSG00000174469	ENSG00000174469	HGNC:13830													
DEPDC5	gene	DEPDC5	Expert Review Green;Radboud University Medical Center, Nijmegen	Familial Focal Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy, familial focal, with variable foci;604364				14510823;15329069;10825362;10577924;9851433;23542701		False	3	100;0;0	1.11	True		ENSG00000100150	ENSG00000100150	HGNC:18423													
KCNT1	gene	KCNT1	Expert Review Green;Literature	Familial Focal Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	615005				23086396		False	3	100;0;0	1.11	True		ENSG00000107147	ENSG00000107147	HGNC:18865													
LGI1	gene	LGI1	Expert Review;Expert Review Green	Familial Focal Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Epilepsy, familial temporal lobe, 1	600512"						False	3	100;0;0	1.11	True		ENSG00000108231	ENSG00000108231	HGNC:6572													
SCN1A	gene	SCN1A	Expert Review Green;Literature	Familial Focal Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	607208				26188943		False	3	100;0;0	1.11	True		ENSG00000144285	ENSG00000144285	HGNC:10585													
CHRNA2	gene	CHRNA2	Expert Review Red;Literature	Familial Focal Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	610353				16826524		False	1	0;0;100	1.11	True		ENSG00000120903	ENSG00000120903	HGNC:1956													
SCN9A	gene	SCN9A	Other	Familial Focal Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epilepsy, generalized, with febrile seizures plus, type 7;Febrile seizures, familial, 3B				19763161		False	1	0;0;0	1.11	False		ENSG00000169432	ENSG00000169432	HGNC:10597													
TSC1	gene	TSC1	Expert Review Red;Illumina TruGenome Clinical Sequencing Services	Familial Focal Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Focal Cortical Dysplasia of Taylor 						False	1	0;0;0	1.11	True		ENSG00000165699	ENSG00000165699	HGNC:12362