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 1.21 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 1.21 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 1.21 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 1.21 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, 218030" 17314322;15126515;12788846 False 3 100;0;0 1.21 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 1.21 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 1.21 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 1.21 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 1.21 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 1.21 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 1.21 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 1.21 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 1.21 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 1.21 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 1.21 False ENSG00000126562 ENSG00000126562 HGNC:14544