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
ACADVL	gene	ACADVL	Expert list	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	"VLCAD deficiency	MIM#201475"				PMID: 20301763;32885845;31372341		False	1	100;0;0	0.41	False		ENSG00000072778	ENSG00000072778	HGNC:92													
AK2	gene	AK2	Expert list	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal							False	1	0;100;0	0.41	False		ENSG00000004455	ENSG00000004455	HGNC:362													
ALPL	gene	ALPL	Expert List;Expert Review Red	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal							False	1	100;0;0	0.41	True		ENSG00000162551	ENSG00000162551	HGNC:438													
CD3D	gene	CD3D	Expert List	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	primary immunodeficiency;life-threatening infections: recurrent bacterial/viral/ fungal infections;chronic diarrhoea;recurrent respiratory infections;failure to thrive. Immunologic profile shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype.;OMIM: 186790				PMID: 38022338, 36944331, 15729559, 16672702, https://doi.org/10.1016/j.jaci.2022.10.022		False	1	100;0;0	0.41	False		ENSG00000167286	ENSG00000167286	HGNC:1673													
PAH	gene	PAH	Expert list	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	Phenylketonuria MIM#261600				PMID: 39630157;40378670		False	1	100;0;0	0.41	False		ENSG00000171759	ENSG00000171759	HGNC:8582