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
CACNA1C	gene	CACNA1C	Expert list;Expert Review Amber	Hyperinsulinism		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Hyperinsulinism, MONDO:0002177, CACNA1C-related;Timothy syndrome, MIM#	601005"			Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943	35897673		False	2	0;100;0	1.30	True		ENSG00000151067	ENSG00000151067	HGNC:1390													
CACNA1D	gene	CACNA1D	Expert list;Expert Review Amber	Hyperinsulinism		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperinsulinism;heart defect;hypotonia			Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943	28318089;23913001		False	2	0;50;50	1.30	True	Other	ENSG00000157388	ENSG00000157388	HGNC:1391													
TRMT10A	gene	TRMT10A	Expert list;Expert Review Amber	Hyperinsulinism		Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	"Microcephaly, short stature, and impaired glucose metabolism 1, MIM#	616033"			Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943			False	2	0;100;0	1.30	True		ENSG00000145331	ENSG00000145331	HGNC:28403													
UCP2	gene	UCP2	Expert Review Amber;Victorian Clinical Genetics Services	Hyperinsulinism		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperinsulinism			Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943	19065272		False	2	0;100;0	1.30	True		ENSG00000175567	ENSG00000175567	HGNC:12518