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
APOB	gene	APOB	Expert Review Green	Newborns additional phenotypes panel 2			BIALLELIC, autosomal or pseudoautosomal	Hypercholesterolaemia, familial, 2 autosomal recessive						False	3	0;0;0	0.31	False		ENSG00000084674	ENSG00000084674	HGNC:603													
GH1	gene	GH1	Expert Review Green	Newborns additional phenotypes panel 2			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Isolated growth hormone deficiency type II, autosomal dominant						False	3	0;0;0	0.31	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000259384	ENSG00000259384	HGNC:4261													
KCNJ11	gene	KCNJ11	Expert Review Green	Newborns additional phenotypes panel 2			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Diabetes, permanent neonatal 2, with or without neurologic features						False	3	0;0;0	0.31	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000187486	ENSG00000187486	HGNC:6257													
TLR3	gene	TLR3	Expert Review Green	Newborns additional phenotypes panel 2			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Immunodeficiency 83 dominant negative						False	3	0;0;0	0.31	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000164342	ENSG00000164342	HGNC:11849													
ABCC8	gene	ABCC8	Expert Review Amber	Newborns additional phenotypes panel 2			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Diabetes mellitus, permanent neonatal 3, with or without neurologic features, autosomal dominant						False	2	0;0;0	0.31	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000006071	ENSG00000006071	HGNC:59													
CARD11	gene	CARD11	Expert Review Amber	Newborns additional phenotypes panel 2			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Immunodeficiency 11B with atopic dermatitis						False	2	0;0;0	0.31	False		ENSG00000198286	ENSG00000198286	HGNC:16393													
CFH	gene	CFH	Expert Review Amber	Newborns additional phenotypes panel 2			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Complement factor H deficiency, autosomal dominant						False	2	0;0;0	0.31	False		ENSG00000000971	ENSG00000000971	HGNC:4883													
GNAS	gene	GNAS	Expert Review Amber	Newborns additional phenotypes panel 2			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pseudohypoparathyroidism Ic						False	2	0;0;0	0.31	False		ENSG00000087460	ENSG00000087460	HGNC:4392													
RAC2	gene	RAC2	Expert Review Amber	Newborns additional phenotypes panel 2			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Immunodeficiency 73A						False	2	0;0;0	0.31	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000128340	ENSG00000128340	HGNC:9802													
SCN4A	gene	SCN4A	Expert Review Amber	Newborns additional phenotypes panel 2			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hyperkalemic periodic paralysis						False	2	0;0;0	0.31	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000007314	ENSG00000007314	HGNC:10591													
CASR	gene	CASR	Expert Review Red	Newborns additional phenotypes panel 2			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	familial hypocalciuric hypercalcemia type I						False	1	0;0;0	0.31	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000036828	ENSG00000036828	HGNC:1514