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
AGT	gene	AGT	Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Extreme early-onset hypertension	Disorders of function	Renal and urinary tract disorders	Unknown	{Hypertension, essential, susceptibility to}, 145500;{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430				24452034		False	1	0;0;0	1.23	False		ENSG00000135744	ENSG00000135744	HGNC:333													
AGTR1	gene	AGTR1	Expert Review Red;Radboud University Medical Center, Nijmegen	Extreme early-onset hypertension	Disorders of function	Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Hypertension, essential, 145500;Renal tubular dysgenesis, 267430				8021009;16116425;23942655;25603901		False	1	100;0;0	1.23	False		ENSG00000144891	ENSG00000144891	HGNC:336													
BMPR2	gene	BMPR2	Radboud University Medical Center, Nijmegen	Extreme early-onset hypertension	Disorders of function	Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pulmonary hypertension, familial primary, 1, with or without HHT, 178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600, Pulmonary venoocclusive disease 1, 265450						False	1	0;0;100	1.23	False		ENSG00000204217	ENSG00000204217	HGNC:1078													
CAV1	gene	CAV1	Expert Review Red;Radboud University Medical Center, Nijmegen	Extreme early-onset hypertension	Disorders of function	Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lipodystrophy, congenital generalized, type 3, 612526;Pulmonary hypertension, primary, 3, 615343						False	1	0;0;100	1.23	False		ENSG00000105974	ENSG00000105974	HGNC:1527													
CPS1	gene	CPS1	Expert Review Red;Radboud University Medical Center, Nijmegen	Extreme early-onset hypertension	Disorders of function	Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Carbamoylphosphate synthetase I deficiency, 237300;{Pulmonary hypertension, neonatal, susceptibility to}, 615371;{Venoocclusive disease after bone marrow transplantation}						False	1	0;0;0	1.23	False		ENSG00000021826	ENSG00000021826	HGNC:2323													
CYP21A2	gene	CYP21A2	Expert;Expert Review Red	Extreme early-onset hypertension	Disorders of function	Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	"Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	201910;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 201910"						False	1	0;0;100	1.23	False		ENSG00000231852	ENSG00000231852	HGNC:2600													
KCNK3	gene	KCNK3	Expert Review Red;Radboud University Medical Center, Nijmegen	Extreme early-onset hypertension	Disorders of function	Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pulmonary hypertension, primary, 4, 615344						False	1	0;0;100	1.23	False		ENSG00000171303	ENSG00000171303	HGNC:6278													
PNMT	gene	PNMT	Expert Review Red;Radboud University Medical Center, Nijmegen	Extreme early-onset hypertension	Disorders of function	Renal and urinary tract disorders	Unknown							False	1	0;0;0	1.23	False		ENSG00000141744	ENSG00000141744	HGNC:9160													
PTGIS	gene	PTGIS	Expert Review Red;Radboud University Medical Center, Nijmegen	Extreme early-onset hypertension	Disorders of function	Renal and urinary tract disorders	Other - please specifiy in evaluation comments	Hypertension, essential, 145500						False	1	0;0;0	1.23	False		ENSG00000124212	ENSG00000124212	HGNC:9603													
SARS2	gene	SARS2	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Extreme early-onset hypertension	Disorders of function	Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845				21255763		False	1	0;0;0	1.23	False		ENSG00000104835	ENSG00000104835	HGNC:17697													
SMAD9	gene	SMAD9	Expert Review Red;Radboud University Medical Center, Nijmegen	Extreme early-onset hypertension	Disorders of function	Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Pulmonary hypertension, primary, 2	615342"						False	1	0;0;100	1.23	False		ENSG00000120693	ENSG00000120693	HGNC:6774