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
AIP	gene	AIP	Expert List	Genomic screening in children: BabyScreen+		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pituitary adenoma predisposition MIM#102200						False	1	100;0;0	0.99	False		ENSG00000110711	ENSG00000110711	HGNC:358													
APC	gene	APC	Expert Review	Genomic screening in children: BabyScreen+		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Adenomatous polyposis coli MIM#175100						False	1	100;0;0	0.99	False		ENSG00000134982	ENSG00000134982	HGNC:583													
CDC73	gene	CDC73	Expert List	Genomic screening in children: BabyScreen+		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hyperparathyroidism-jaw tumor syndrome MIM#145001						False	1	100;0;0	0.99	False		ENSG00000134371	ENSG00000134371	HGNC:16783													
NF2	gene	NF2	Expert List	Genomic screening in children: BabyScreen+		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Schwannomatosis, vestibular	MIM#101000"						False	1	100;0;0	0.99	False		ENSG00000186575	ENSG00000186575	HGNC:7773													
SMARCAL1	gene	SMARCAL1	Expert list	Genomic screening in children: BabyScreen+		Screening	BIALLELIC, autosomal or pseudoautosomal	Schimke immunoosseous dysplasia MIM#242900				PMID: 20301550		False	1	100;0;0	0.99	False		ENSG00000138375	ENSG00000138375	HGNC:11102													
SPTLC1	gene	SPTLC1	Expert list	Genomic screening in children: BabyScreen+		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyotrophic lateral sclerosis 27, juvenile MIM#620285				PMID: 34059824		False	1	100;0;0	0.99	False		ENSG00000090054	ENSG00000090054	HGNC:11277													
TTN	gene	TTN	Expert list	Genomic screening in children: BabyScreen+		Screening	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Cardiomyopathy, dilated, 1G	MIM#604145"				PMID: 22335739;40796136		False	1	0;100;0	0.99	False		ENSG00000155657	ENSG00000155657	HGNC:12403													
VWF	gene	VWF	Expert list	Genomic screening in children: BabyScreen+		Screening	BIALLELIC, autosomal or pseudoautosomal	von Willebrand disease, type 3 MIM#277480						False	1	0;100;0	0.99	False		ENSG00000110799	ENSG00000110799	HGNC:12726													
ZBTB24	gene	ZBTB24	Expert list;Expert Review Red	Genomic screening in children: BabyScreen+		Screening	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069				PMID: 28128455,  21906047, 21596365, 23486536		False	1	0;100;0	0.99	True		ENSG00000112365	ENSG00000112365	HGNC:21143