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
AP2S1	gene	AP2S1	Expert Review Red	Newborns main panel			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	familial hypocalciuric hypercalcemia type III						False	1	0;0;0	0.508	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000042753	ENSG00000042753	HGNC:565													
APC	gene	APC	Expert Review Red	Newborns main panel			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Adenomatous polyposis coli						False	1	0;0;0	0.508	False		ENSG00000134982	ENSG00000134982	HGNC:583													
BMPR1A	gene	BMPR1A	Expert Review Red	Newborns main panel			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polyposis, juvenile intestinal						False	1	0;0;0	0.508	False		ENSG00000107779	ENSG00000107779	HGNC:1076													
CHD7	gene	CHD7	Expert Review Red	Newborns main panel			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	CHARGE syndrome						False	1	0;0;0	0.508	False		ENSG00000171316	ENSG00000171316	HGNC:20626													
GNA11	gene	GNA11	Expert Review Red	Newborns main panel			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypocalcemia, autosomal dominant 2						False	1	0;0;0	0.508	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000088256	ENSG00000088256	HGNC:4379													
HFE	gene	HFE	Expert Review Red	Newborns main panel			BIALLELIC, autosomal or pseudoautosomal	Hemochromatosis						False	1	0;0;0	0.508	False		ENSG00000010704	ENSG00000010704	HGNC:4886													
HNF4A	gene	HNF4A	Expert Review Red	Newborns main panel			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	HNF4A associated hyperinsulinism						False	1	0;0;0	0.508	False		ENSG00000101076	ENSG00000101076	HGNC:5024													
KL	gene	KL	Expert Review Red	Newborns main panel			BIALLELIC, autosomal or pseudoautosomal	Tumoral calcinosis, hyperphosphatemic, familial, 3						False	1	0;0;0	0.508	False		ENSG00000133116	ENSG00000133116	HGNC:6344													
KLF11	gene	KLF11	Expert Review Red	Newborns main panel			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Maturity-onset diabetes of the young, type VII						False	1	0;0;0	0.508	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000172059	ENSG00000172059	HGNC:11811													
MUTYH	gene	MUTYH	Expert Review Red	Newborns main panel			BIALLELIC, autosomal or pseudoautosomal	Adenomas, multiple colorectal						False	1	0;0;0	0.508	False		ENSG00000132781	ENSG00000132781	HGNC:7527													
NF1	gene	NF1	Expert Review Red	Newborns main panel			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurofibromatosis type 1						False	1	0;0;0	0.508	False		ENSG00000196712	ENSG00000196712	HGNC:7765													
PKD1	gene	PKD1	Expert Review Red	Newborns main panel			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polycystic kidney disease 1						False	1	0;0;0	0.508	False		ENSG00000008710	ENSG00000008710	HGNC:9008													
PKD2	gene	PKD2	Expert Review Red	Newborns main panel			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polycystic kidney disease 2						False	1	0;0;0	0.508	False		ENSG00000118762	ENSG00000118762	HGNC:9009													
SCARB2	gene	SCARB2	Expert Review Red	Newborns main panel			BIALLELIC, autosomal or pseudoautosomal	progressive myoclonic epilepsy 4						False	1	0;0;0	0.508	False		ENSG00000138760	ENSG00000138760	HGNC:1665													
SLC12A3	gene	SLC12A3	Expert Review Red	Newborns main panel			BIALLELIC, autosomal or pseudoautosomal	Gitelman syndrome						False	1	0;0;0	0.508	False		ENSG00000070915	ENSG00000070915	HGNC:10912													
SLC30A2	gene	SLC30A2	Expert Review Red	Newborns main panel			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Transient neonatal zinc deficiency						False	1	0;0;0	0.508	False		ENSG00000158014	ENSG00000158014	HGNC:11013													
SMAD4	gene	SMAD4	Expert Review Red	Newborns main panel			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polyposis, juvenile intestinal						False	1	0;0;0	0.508	False		ENSG00000141646	ENSG00000141646	HGNC:6770													
TNFRSF13B	gene	TNFRSF13B	Expert Review Red	Newborns main panel			BIALLELIC, autosomal or pseudoautosomal	Common variable immune deficiency 2, autosomal recessive						False	1	0;0;0	0.508	False		ENSG00000240505	ENSG00000240505	HGNC:18153													
UCP2	gene	UCP2	Expert Review Red	Newborns main panel			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	UCP2 associated hyperinsulinism						False	1	0;0;0	0.508	False		ENSG00000175567	ENSG00000175567	HGNC:12518													
WDR72	gene	WDR72	Expert Review Red	Newborns main panel			BIALLELIC, autosomal or pseudoautosomal	WDR72 associated distal renal tubular acidosis						False	1	0;0;0	0.508	False		ENSG00000166415	ENSG00000166415	HGNC:26790													
WFS1	gene	WFS1	Expert Review Red	Newborns main panel			BIALLELIC, autosomal or pseudoautosomal	Wolfram Syndrome 1						False	1	0;0;0	0.508	False		ENSG00000109501	ENSG00000109501	HGNC:12762