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
MAFA	gene	MAFA	NHS GMS	Congenital hyperinsulinism		Endocrinology								False	1	50;0;50	3.7	False		ENSG00000182759	ENSG00000182759	HGNC:23145													
RYR3	gene	RYR3	Expert Review Red;Radboud University Medical Center, Nijmegen	Congenital hyperinsulinism		Endocrinology		No OMIM phenotypeEpileptic encephalopathy (Appenzeller (2014) Am J Hum Genet 95, 360)Hyperinsulinism (Proverbio (2013) PLoS One 8, e68740)Schizophrenia (Fromer (2014) Nature 506, 179)Lennox-Gastaut syndrome (Appenzeller (2014) Am J Hum Genet 95, 360)						False	1	0;0;0	3.7	True		ENSG00000198838	ENSG00000198838	HGNC:10485													
TRMT10A	gene	TRMT10A	Expert Review;Expert Review Red;NHS GMS	Congenital hyperinsulinism		Endocrinology	BIALLELIC, autosomal or pseudoautosomal					25053765		False	1	33;0;67	3.7	True		ENSG00000145331	ENSG00000145331	HGNC:28403