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
ACADM	gene	ACADM	Expert list;Expert Review Green	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	"Acyl-CoA dehydrogenase, medium chain, deficiency of	MIM# 201450"						False	3	100;0;0	0.41	True		ENSG00000117054	ENSG00000117054	HGNC:89													
ALDH7A1	gene	ALDH7A1	Expert Review Green;Other	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, pyridoxine-dependent, MIM#266100				PMID: 20301659;33200442		False	3	100;0;0	0.41	True		ENSG00000164904	ENSG00000164904	HGNC:877													
ARSB	gene	ARSB	Expert list;Expert Review Green	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis VI (MPS6, MIM# 253200						False	3	100;0;0	0.41	False		ENSG00000113273	ENSG00000113273	HGNC:714													
BCKDHA	gene	BCKDHA	Expert Review Green;Literature	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	Maple syrup urine disease, type Ia, MIM# 248600						False	3	100;0;0	0.41	True		ENSG00000248098	ENSG00000248098	HGNC:986													
BCKDHB	gene	BCKDHB	Expert Review;Expert Review Green;Literature	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	Maple syrup urine disease, type Ib, MIM# 248600						False	3	100;0;0	0.41	True		ENSG00000083123	ENSG00000083123	HGNC:987													
CBS	gene	CBS	Expert list;Expert Review Green	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	Homocystinuria, B6-responsive and nonresponsive types MIM#236200				27778219		False	3	100;0;0	0.41	True		ENSG00000160200	ENSG00000160200	HGNC:1550													
F9	gene	F9	Expert list;Expert Review Green	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)	Haemophilia B, MIM# 306900				20301668;32809627		False	3	100;0;0	0.41	True		ENSG00000101981	ENSG00000101981	HGNC:3551													
GALK1	gene	GALK1	Expert Review;Expert Review Green	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	Galactokinase deficiency with cataracts MIM#230200				32807972		False	3	100;0;0	0.41	True		ENSG00000108479	ENSG00000108479	HGNC:4118													
GAMT	gene	GAMT	Expert Review;Expert Review Green	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	Creberal creatine deficiency syndrome 2 (MIM 612736)				36856349;28055022;28055022		False	3	100;0;0	0.41	True		ENSG00000130005	ENSG00000130005	HGNC:4136													
LHX3	gene	LHX3	Expert Review Green;Literature	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	Pituitary hormone deficiency, combined, 3 (MIM#221750)						False	3	100;0;0	0.41	True		ENSG00000107187	ENSG00000107187	HGNC:6595													
RPS19	gene	RPS19	Expert Review;Expert Review Green	Genomic newborn screening: ICoNS		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan Anemia				20301769;30503522		False	3	100;0;0	0.41	True		ENSG00000105372	ENSG00000105372	HGNC:10402													
RPS26	gene	RPS26	Expert Review Green;Literature	Genomic newborn screening: ICoNS		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 10				20301769, 30503522		False	3	100;0;0	0.41	True		ENSG00000197728	ENSG00000197728	HGNC:10414													
TCN2	gene	TCN2	Expert list;Expert Review Green	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	Transcobalamin II deficiency, MIM#275350				PMID: 24305960		False	3	100;0;0	0.41	True		ENSG00000185339	ENSG00000185339	HGNC:11653													
ZAP70	gene	ZAP70	Expert List;Expert Review Green	Genomic newborn screening: ICoNS		Screening	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency MIM#176947				PMID: 20301777;32579701		False	3	100;0;0	0.41	True		ENSG00000115085	ENSG00000115085	HGNC:12858													
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													
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