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
ATP6AP2	gene	ATP6AP2	Expert Review Amber;Literature	Epileptic encephalopathy	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	"Mental retardation, X-linked, syndromic, Hedera type	300423"				26467484;15746149		False	2	0;100;0	1.158	False		ENSG00000182220	ENSG00000182220	HGNC:18305													
HAX1	gene	HAX1	Expert Review Amber;Literature	Epileptic encephalopathy	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neutropenia, severe congenital 3, autosomal recessive, 610738				18611981		False	2	0;100;0	1.158	False		ENSG00000143575	ENSG00000143575	HGNC:16915													
TSC1	gene	TSC1	Expert Review Amber;Literature	Epileptic encephalopathy	Inherited Epilepsy Syndromes	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Focal cortical dysplasia, type II, somatic 607341				28215400;19175396;16114042;12112044		False	2	0;0;0	1.158	False	Other - please provide details in the comments	ENSG00000165699	ENSG00000165699	HGNC:12362