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 CACNA1D gene CACNA1D Expert Review Green;KidGen_AldoHypertension v38.1.0 Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474;MONDO:0014200 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 23913001;32336187;30698561 False 3 100;0;0 1.15 True ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1H gene CACNA1H Expert Review Green;KidGen_AldoHypertension v38.1.0 Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperaldosteronism, familial, type IV MIM#617027;MONDO:0014875 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 27729216;25907736;31126930 False 3 100;0;0 1.15 True ENSG00000196557 ENSG00000196557 HGNC:1395 CLCN2 gene CLCN2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperaldosteronism, familial, type II 605635 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 29403011;29403012 False 3 100;0;0 1.15 True ENSG00000114859 ENSG00000114859 HGNC:2020 CUL3 gene CUL3 Expert Review Green;KidGen_AldoHypertension v38.1.0 Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIE, MIM# 614496 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 22266938 False 3 100;0;0 1.15 True ENSG00000036257 ENSG00000036257 HGNC:2553 CYP11B1 gene CYP11B1 Expert Review;Expert Review Green Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Aldosteronism, glucocorticoid-remediable, MIM# 103900" Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 1731223;29703198 False 3 50;50;0 1.15 True ENSG00000160882 ENSG00000160882 HGNC:2591 CYP11B2 gene CYP11B2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600) Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 8439335;9360501;15240589;9814506;12788848;8772616 False 3 100;0;0 1.15 True ENSG00000179142 ENSG00000179142 HGNC:2592 CYP17A1 gene CYP17A1 Expert list;Expert Review Green Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 PMID: 2843762, 14671162, 2026124 False 3 100;0;0 1.15 True ENSG00000148795 ENSG00000148795 HGNC:2593 CYP21A2 gene CYP21A2 Expert list;Expert Review Green Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 False 3 100;0;0 1.15 True ENSG00000231852 ENSG00000231852 HGNC:2600 HSD11B2 gene HSD11B2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Apparent mineralocorticoid excess, MIM# 218030;MONDO:0009025 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 7670488;9683587;17314322 False 3 100;0;0 1.15 True ENSG00000176387 ENSG00000176387 HGNC:5209 HSD3B2 gene HSD3B2 Expert list;Expert Review Green Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 PMID: 1363812, 18252794 False 3 100;0;0 1.15 True ENSG00000203859 ENSG00000203859 HGNC:5218 KCNJ5 gene KCNJ5 Expert Review Green;KidGen_AldoHypertension v38.1.0 Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperaldosteronism, familial, type III, MIM# 613677 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 21311022;22203740;24420545;24574546 False 3 100;0;0 1.15 True ENSG00000120457 ENSG00000120457 HGNC:6266 KLHL3 gene KLHL3 Expert Review Green;KidGen_AldoHypertension v38.1.0 Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type IID, MIM# 614495 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 22266938;22406640;24821705;34022862;32462939 False 3 100;0;0 1.15 True ENSG00000146021 ENSG00000146021 HGNC:6354 NPR1 gene NPR1 Expert Review Green;Literature Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Genetic hypertension MONDO:0015512 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 PMID: 37080586 False 3 100;0;0 1.15 True ENSG00000169418 ENSG00000169418 HGNC:7943 NR3C1 gene NR3C1 Expert Review Green;Literature Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glucocorticoid resistance, OMIM # 615962 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 PubMed: 12754700, 1704018, 8445027, 31995340 False 3 100;0;0 1.15 True ENSG00000113580 ENSG00000113580 HGNC:7978 NR3C2 gene NR3C2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735;MONDO:0008329 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 9662404;11134129;11344206;12788847;16972228 False 3 100;0;0 1.15 True ENSG00000151623 ENSG00000151623 HGNC:7979 PDE3A gene PDE3A Expert Review Green;KidGen_AldoHypertension v38.1.0 Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertension and brachydactyly syndrome, MIM# 112410 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 25961942 False 3 0;0;0 1.15 True ENSG00000172572 ENSG00000172572 HGNC:8778 SCNN1A gene SCNN1A Expert Review Green;KidGen_AldoHypertension v38.1.0 Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Liddle syndrome 3 618126 AD;Bronchiectasis with or without elevated sweat chloride 2 613021 AD;Pseudohypoaldosteronism, type I 264350 AR. Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 31301676;28710092 False 3 0;0;0 1.15 True Other ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Expert Review Green;KidGen_AldoHypertension v38.1.0 Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Liddle syndrome 1, MIM# 177200;Pseudohypoaldosteronism, type I, MIM# 264350 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 False 3 100;0;0 1.15 True ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1G gene SCNN1G Expert Review Green;KidGen_AldoHypertension v38.1.0 Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Liddle syndrome 2, MIM# 618114;Pseudohypoaldosteronism, type I, MIM# 264350 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 False 3 100;0;0 1.15 True ENSG00000166828 ENSG00000166828 HGNC:10602 WNK1 gene WNK1 Expert Review Green;KidGen_AldoHypertension v38.1.0 Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism 2C (PHA2C), MIM#614492 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 11498583;11498583;32790646 False 3 100;0;0 1.15 True Other ENSG00000060237 ENSG00000060237 HGNC:14540 WNK4 gene WNK4 Expert Review Green;KidGen_AldoHypertension v38.1.0 Hypertension and Aldosterone disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIB, MIM# 614491 Hypertension;HP:0000822; Abnormal circulating aldosterone;HP:0040085 22266938;31044551 False 3 100;0;0 1.15 True ENSG00000126562 ENSG00000126562 HGNC:14544