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
EIF2S3	gene	EIF2S3	Expert Review Red;Victorian Clinical Genetics Services	Hyperinsulinism		Endocrine disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	MEHMO syndrome, MIM# 300148			Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943	30878599		False	1	0;0;100	1.51	True		ENSG00000130741	ENSG00000130741	HGNC:3267													
GPC3	gene	GPC3	Expert Review Red;Literature	Hyperinsulinism		Endocrine disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	"Simpson-Golabi-Behmel syndrome, type 1	MIM#312870"			Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943	20301398		False	1	0;0;100	1.51	True		ENSG00000147257	ENSG00000147257	HGNC:4451													
MPI	gene	MPI	Expert Review;Expert Review Red;Victorian Clinical Genetics Services	Hyperinsulinism		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ib, MIM# 602579			Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943	PMID: 29531722;0980531;12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110		False	1	33;33;33	1.51	True		ENSG00000178802	ENSG00000178802	HGNC:7216													
TRMT10A	gene	TRMT10A	Expert list;Expert Review Red	Hyperinsulinism		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	"Microcephaly, short stature, and impaired glucose metabolism 1, MIM#	616033"			Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943	25053765		False	1	0;50;50	1.51	True		ENSG00000145331	ENSG00000145331	HGNC:28403													
YARS	gene	YARS	Expert Review Red;Literature	Hyperinsulinism		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418			Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943	PMID: 33490854		False	1	0;0;100	1.51	True		ENSG00000134684	ENSG00000134684	HGNC:12840													
