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
GABRA1	gene	GABRA1	Expert list;Expert Review Green	Familial Genetic Generalised Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	611136				11992121;21714819;16718694		False	3	100;0;0	1.24	True		ENSG00000022355	ENSG00000022355	HGNC:4075													
GABRG2	gene	GABRG2	Expert Review Green;Radboud University Medical Center, Nijmegen	Familial Genetic Generalised Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Epilepsy, generalized, with febrile seizures plus,type3;Febrile seizures, familial, 8;611277				27066572;11326275;11326274		False	3	100;0;0	1.24	True		ENSG00000113327	ENSG00000113327	HGNC:4087													
PCDH19	gene	PCDH19	Expert list;Expert Review Green	Familial Genetic Generalised Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	300088				19752159		False	3	100;0;0	1.24	True	Other - please provide details in the comments	ENSG00000165194	ENSG00000165194	HGNC:14270													
SCN1A	gene	SCN1A	Expert Review Green;Radboud University Medical Center, Nijmegen	Familial Genetic Generalised Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy, generalized, with febrile seizures plus, type 2;Febrile seizures, familial, 3A;604403				10742094		False	3	100;0;0	1.24	True		ENSG00000144285	ENSG00000144285	HGNC:10585													
SCN1B	gene	SCN1B	Expert Review Green;Radboud University Medical Center, Nijmegen	Familial Genetic Generalised Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epilepsy, generalized, with febrile seizures plus, type 1;604233				16205844;9697698		False	3	100;0;0	1.24	True		ENSG00000105711	ENSG00000105711	HGNC:10586													
SLC2A1	gene	SLC2A1	Expert Review Green;Radboud University Medical Center, Nijmegen	Familial Genetic Generalised Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	{Epilepsy,idiopathicgeneralized,suscpetibilityto,12};614847;606777;612126				22282645;20574033		False	3	100;0;0	1.24	True		ENSG00000117394	ENSG00000117394	HGNC:11005													
TRAK1	gene	TRAK1	Expert Review Green;Literature	Familial Genetic Generalised Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Fatal encephalopathy				28364549		False	3	100;0;0	1.24	False		ENSG00000182606	ENSG00000182606	HGNC:29947													
CACNA1H	gene	CACNA1H	Expert Review Amber;Literature	Familial Genetic Generalised Epilepsies	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Hyperaldosteronism, familial, type IV	617027;{Epilepsy, childhood absence, susceptibility to, 6}	611942;{Epilepsy, idiopathic generalized, susceptibility to, 6}	611942"				12891677;12891677		False	2	0;100;0	1.24	False		ENSG00000196557	ENSG00000196557	HGNC:1395													
