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 CUL3 gene CUL3 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Extreme early-onset hypertension Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIE, 614496 22266938 False 3 100;0;0 1.23 False ENSG00000036257 ENSG00000036257 HGNC:2553 CYP11B1 gene CYP11B1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Extreme early-onset hypertension Disorders of function Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aldosteronism, glucocorticoid-remediable, OMIM:103900;Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010;Early onset hypertension with raised urinary 18-hydroxy-steroids, steroid-sensitive 16670167; 15324322; 11549691 False 3 100;0;0 1.23 False ENSG00000160882 ENSG00000160882 HGNC:2591 CYP11B2 gene CYP11B2 Expert Review Green;Radboud University Medical Center, Nijmegen Extreme early-onset hypertension Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aldosteronism, glucocorticoid-remediable, OMIM:103900;{Low renin hypertension, susceptibility to};Aldosterone to renin ratio raised 1731223;26309573;23150505 False 3 100;0;0 1.23 False Other - please provide details in the comments ENSG00000179142 ENSG00000179142 HGNC:2592 CYP17A1 gene CYP17A1 Emory Genetics Laboratory;Expert;Expert Review Green;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 "17,20-lyase deficiency, isolated 202110;17-alpha-hydroxylase/17,20-lyase deficiency 202110" False 3 100;0;0 1.23 False ENSG00000148795 ENSG00000148795 HGNC:2593 HSD11B2 gene HSD11B2 Expert;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Extreme early-onset hypertension Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Apparent mineralocorticoid excess, OMIM:218030;apparent mineralocorticoid excess, MONDO:0009025 17314322;15126515;12788846 False 3 100;0;0 1.23 False ENSG00000176387 ENSG00000176387 HGNC:5209 KCNJ5 gene KCNJ5 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Extreme early-onset hypertension Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hyperaldosteronism, familial, type III 613677" False 3 0;0;0 1.23 False ENSG00000120457 ENSG00000120457 HGNC:6266 KLHL3 gene KLHL3 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Extreme early-onset hypertension Disorders of function Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type IID, 614495 22266938;22406640 False 3 100;0;0 1.23 False ENSG00000146021 ENSG00000146021 HGNC:6354 MTX2 gene MTX2 Expert Review;Expert Review Green;Literature Extreme early-onset hypertension Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia;lipodystrophy;arterial calcification;severe hypertension 32917887 False 3 100;0;0 1.23 False ENSG00000128654 ENSG00000128654 HGNC:7506 NR3C1 gene NR3C1 Expert;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Extreme early-onset hypertension Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Glucocorticoid resistance 615962" False 3 0;0;0 1.23 False ENSG00000113580 ENSG00000113580 HGNC:7978 NR3C2 gene NR3C2 Expert list;Expert Review Green;Literature Extreme early-onset hypertension Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115" 10884226;19325532 False 3 100;0;0 1.23 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000151623 ENSG00000151623 HGNC:7979 SCNN1B gene SCNN1B Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Extreme early-onset hypertension Disorders of function Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Bronchiectasis with or without elevated sweat chloride 1 211400;Liddle syndrome, 177200;Pseudohypoaldosteronism, type I, 264350" 8589714; 9100575; 15483078 False 3 100;0;0 1.23 False ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1G gene SCNN1G Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Extreme early-onset hypertension Disorders of function Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bronchiectasis with or without elevated sweat chloride 3, 613071;Liddle syndrome, 177200;Pseudohypoaldosteronism, type I, 264350 7550319;26537344 False 3 100;0;0 1.23 False ENSG00000166828 ENSG00000166828 HGNC:10602 TTC21B gene TTC21B Expert Review;Expert Review Green Extreme early-onset hypertension Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypertension;focal segmental glomerulosclerosis;nephronopthisis;myopia;Nephronophthisis 12, OMIM:613820 24876116;26940125;34957165;34805047;35289079 False 3 100;0;0 1.23 False ENSG00000123607 ENSG00000123607 HGNC:25660 WNK1 gene WNK1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Extreme early-onset hypertension Disorders of function Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300;Pseudohypoaldosteronism, type IIC, OMIM:614492 27082544;11498583 False 3 100;0;0 1.23 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000060237 ENSG00000060237 HGNC:14540 WNK4 gene WNK4 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Extreme early-onset hypertension Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIB, 614491 12107233;12515852;11498583 False 3 100;0;0 1.23 False ENSG00000126562 ENSG00000126562 HGNC:14544 CACNA1H gene CACNA1H Expert Review Amber;Literature Extreme early-onset hypertension Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperaldosteronism, familial, type IV 617027;{Epilepsy, childhood absence, susceptibility to, 6} 611942;{Epilepsy, idiopathic generalized, susceptibility to, 6} 611942 25907736;27729216 False 2 0;0;100 1.23 False ENSG00000196557 ENSG00000196557 HGNC:1395 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