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
ABCC8	gene	ABCC8	Expert Review Green	Newborns additional phenotypes panel 1			BIALLELIC, autosomal or pseudoautosomal	Diabetes mellitus, permanent neonatal 3, with or without neurologic features, autosomal recessive						False	3	0;0;0	0.114	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													
ALAS2	gene	ALAS2	Expert Review Green	Newborns additional phenotypes panel 1			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Protoporphyria, erythropoietic, X-linked						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000158578	ENSG00000158578	HGNC:397													
AQP2	gene	AQP2	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dominant diabetes insipidus, nephrogenic, 2						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000167580	ENSG00000167580	HGNC:634													
AVP	gene	AVP	Expert Review;Expert Review Green	Newborns additional phenotypes panel 1			BIALLELIC, autosomal or pseudoautosomal	Diabetes insipidus, neurohypophyseal, autosomal recessive				10369876;19897608;22168581		False	3	0;0;0	0.114	False		ENSG00000101200	ENSG00000101200	HGNC:894													
CASR	gene	CASR	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neonatal hyperparathyroidism, Autosomal Dominant						False	3	0;0;0	0.114	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													
CHRNA1	gene	CHRNA1	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Congenital myasthenic syndrome-1, autosomal dominant						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000138435	ENSG00000138435	HGNC:1955													
CHRNB1	gene	CHRNB1	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Congenital myasthenic syndrome-2, autosomal dominant						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000170175	ENSG00000170175	HGNC:1961													
CHRND	gene	CHRND	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Congenital myasthenic syndrome-3, autosomal dominant						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000135902	ENSG00000135902	HGNC:1965													
CLCN7	gene	CLCN7	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Osteopetrosis type 4, autosomal dominant						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000103249	ENSG00000103249	HGNC:2025													
EDAR	gene	EDAR	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000135960	ENSG00000135960	HGNC:2895													
EDARADD	gene	EDARADD	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant						False	3	0;0;0	0.114	False		ENSG00000186197	ENSG00000186197	HGNC:14341													
ERCC4	gene	ERCC4	Expert Review Green	Newborns additional phenotypes panel 1			BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group F						False	3	0;0;0	0.114	False		ENSG00000175595	ENSG00000175595	HGNC:3436													
FGF23	gene	FGF23	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypophosphatemic rickets, autosomal dominant						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000118972	ENSG00000118972	HGNC:3680													
GCK	gene	GCK	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Familial hyperinsulinemic hypoglycemia-3						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000106633	ENSG00000106633	HGNC:4195													
GH1	gene	GH1	Expert Review Green	Newborns additional phenotypes panel 1			BIALLELIC, autosomal or pseudoautosomal	Isolated growth hormone deficiency type 1B, autosomal recessive						False	3	0;0;0	0.114	False		ENSG00000259384	ENSG00000259384	HGNC:4261													
HBB	gene	HBB	Expert Review Green	Newborns additional phenotypes panel 1			BIALLELIC, autosomal or pseudoautosomal	Sickle Cell Disease						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000244734	ENSG00000244734	HGNC:4827													
IFNGR1	gene	IFNGR1	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Immunodeficiency 27A, mycobacteriosis, Autosomal dominant						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000027697	ENSG00000027697	HGNC:5439													
INS	gene	INS	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Autosomal dominant diabetes mellitus, permanent neonatal 4						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000254647	ENSG00000254647	HGNC:6081													
KLHL3	gene	KLHL3	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pseudohypoaldosteronism, type IID, autosomal dominant						False	3	0;0;0	0.114	False		ENSG00000146021	ENSG00000146021	HGNC:6354													
MMADHC	gene	MMADHC	Expert Review Green	Newborns additional phenotypes panel 1			BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria, cblD type, variant 2						False	3	0;0;0	0.114	False		ENSG00000168288	ENSG00000168288	HGNC:25221													
NR5A1	gene	NR5A1	Expert list;Expert Review Green	Newborns additional phenotypes panel 1			BIALLELIC, autosomal or pseudoautosomal	NR5A1 associated adrenocortical insufficiency						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000136931	ENSG00000136931	HGNC:7983													
PCSK9	gene	PCSK9	Expert Review Green	Newborns additional phenotypes panel 1			BIALLELIC, autosomal or pseudoautosomal	Familial hypercholesterolaemia-3 Autosomal Recessive						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000169174	ENSG00000169174	HGNC:20001													
PMM2	gene	PMM2	Expert Review Green	Newborns additional phenotypes panel 1			BIALLELIC, autosomal or pseudoautosomal	Polycystic kidney disease with hyperinsulinemic hypoglycemia						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000140650	ENSG00000140650	HGNC:9115													
POU1F1	gene	POU1F1	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pituitary hormone deficiency, combined or isolated, 1, autosomal dominant						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000064835	ENSG00000064835	HGNC:9210													
PROKR2	gene	PROKR2	Expert Review Green	Newborns additional phenotypes panel 1			BIALLELIC, autosomal or pseudoautosomal	Hypogonadotropic hypogonadism 3 with or without anosmia, autosomal recessive						False	3	0;0;0	0.114	False		ENSG00000101292	ENSG00000101292	HGNC:15836													
RAC2	gene	RAC2	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Immunodeficiency 73B						False	3	0;0;0	0.114	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													
SLC2A1	gene	SLC2A1	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	GLUT1 deficiency syndrome-1, Autosomal Dominant						False	3	0;0;0	0.114	False		ENSG00000117394	ENSG00000117394	HGNC:11005													
SLC4A1	gene	SLC4A1	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Distal renal tubular acidosis type 1, autosomal dominant						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000004939	ENSG00000004939	HGNC:11027													
SYT2	gene	SYT2	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Congenital myasthenic syndrome 7, autosomal dominant						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000143858	ENSG00000143858	HGNC:11510													
TCF3	gene	TCF3	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Agammaglobulinaemia 8, autosomal dominant						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000071564	ENSG00000071564	HGNC:11633													
THRB	gene	THRB	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Thyroid hormone resistance, autosomal dominant						False	3	0;0;0	0.114	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000151090	ENSG00000151090	HGNC:11799													
TLR3	gene	TLR3	Expert Review Green	Newborns additional phenotypes panel 1			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Immunodeficiency 83 dominant loss of function						False	3	0;0;0	0.114	False		ENSG00000164342	ENSG00000164342	HGNC:11849