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
ABCC8	gene	ABCC8	Expert list;Expert Review Amber	Genomic newborn screening: ICoNS		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diabetes mellitus, permanent neonatal 3 MIM# 618857				PMID: 20301620;32027066;20922570;16885549		False	2	50;50;0	0.41	True		ENSG00000006071	ENSG00000006071	HGNC:59													
KCNJ11	gene	KCNJ11	Expert Review Amber;Other	Genomic newborn screening: ICoNS		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Diabetes mellitus, transient neonatal, 3 610582 Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820				PMID: 28824061;PMID: 32027066;PMID: 21674179;PMID: 38226203;PMID: 26908106		False	2	0;50;50	0.41	True		ENSG00000187486	ENSG00000187486	HGNC:6257													
MYH7	gene	MYH7	Expert Review;Expert Review Amber	Genomic newborn screening: ICoNS		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cardiomyopathy, dilated, 1S;Cardiomyopathy, hypertrophic, 1;Congenital myopathy 7A, myosin storage, autosomal dominant;Congenital myopathy 7B, myosin storage, autosomal recessive;Laing distal myopathy;Left ventricular noncompaction 5				doi.org/10.1016/j.jacc.2022.07.023;doi.org/10.1038/gim.2017.218		False	2	50;50;0	0.41	True	Other	ENSG00000092054	ENSG00000092054	HGNC:7577