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	1.12	True		ENSG00000006071	ENSG00000006071	HGNC:59													
CYP21A2	gene	CYP21A2	Expert Review Amber;Other	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency						False	2	100;0;0	1.12	True	Other	ENSG00000231852	ENSG00000231852	HGNC:2600													
GLA	gene	GLA	ClinGen;Expert Review Amber;Literature	Genomic newborn screening: ICoNS		Screening	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Fabry disease (MIM 301500);Fabry disease, cardiac variant (MIM 301500)				28613767;37259462		False	2	0;0;0	1.12	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000102393	ENSG00000102393	HGNC:4296													
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	1.12	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	1.12	True	Other	ENSG00000092054	ENSG00000092054	HGNC:7577