PanelApp
  1. Panels
  2. Hypertension and Aldosterone disorders
Description
This panel contains genes associated with hypertension and aldosterone disorders. 

This panel was created and is maintained by the KidGen Collaborative. 

It has been compared against the Genomics England PanelApp 'Extreme early-onset hypertension' panel V1.23, with all discrepancies reviewed and resolved (January 2026).
Panel Activity

7 reviewers

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Lilian Downie (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services)

24 Entities

24 reviewed, 22 green

List Entity Reviews Mode of inheritance Details
24 Entitiess
Green Green List (high evidence)
CACNA1D
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474
  • MONDO:0014200
Tags
Green Green List (high evidence)
CACNA1H
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hyperaldosteronism, familial, type IV MIM#617027
  • MONDO:0014875
Tags
Green Green List (high evidence)
CLCN2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hyperaldosteronism, familial, type II 605635
Tags
Green Green List (high evidence)
CUL3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism, type IIE, MIM# 614496
Tags
Green Green List (high evidence)
CYP11B1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Aldosteronism, glucocorticoid-remediable, MIM# 103900
Tags
  • treatable
Green Green List (high evidence)
CYP11B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600)
Tags
  • treatable
Green Green List (high evidence)
CYP17A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Tags
Green Green List (high evidence)
CYP21A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Tags
Green Green List (high evidence)
HSD11B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Apparent mineralocorticoid excess, MIM# 218030
  • MONDO:0009025
Tags
Green Green List (high evidence)
HSD3B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
Tags
Green Green List (high evidence)
KCNJ5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hyperaldosteronism, familial, type III, MIM# 613677
Tags
Green Green List (high evidence)
KLHL3
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism, type IID, MIM# 614495
Tags
Green Green List (high evidence)
MTX2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mandibuloacral dysplasia progeroid syndrome, MIM# 619127
  • Mandibuloacral dysplasia
  • lipodystrophy
  • arterial calcification
Tags
Green Green List (high evidence)
NPR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Genetic hypertension MONDO:0015512
Tags
Green Green List (high evidence)
NR3C1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glucocorticoid resistance, OMIM # 615962
Tags
Green Green List (high evidence)
NR3C2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735
  • MONDO:0008329
Tags
Green Green List (high evidence)
PDE3A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hypertension and brachydactyly syndrome, MIM# 112410
Tags
Green Green List (high evidence)
SCNN1A
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • ?Liddle syndrome 3 618126 AD
  • Bronchiectasis with or without elevated sweat chloride 2 613021 AD
  • Pseudohypoaldosteronism, type I 264350 AR.
Tags
Green Green List (high evidence)
SCNN1B
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Liddle syndrome 1, MIM# 177200
  • Pseudohypoaldosteronism, type I, MIM# 264350
Tags
Green Green List (high evidence)
SCNN1G
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Liddle syndrome 2, MIM# 618114
  • Pseudohypoaldosteronism, type I, MIM# 264350
Tags
Green Green List (high evidence)
WNK1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism 2C (PHA2C), MIM#614492
Tags
Green Green List (high evidence)
WNK4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism, type IIB, MIM# 614491
Tags
Red Red List (low evidence)
ARMC5
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Primary aldosteronism, MONDO:0001422
Tags
Red Red List (low evidence)
USP33
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Renal hypertension MONDO:0001105
Tags

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