PanelApp (staging)
  1. Panels
  2. Hypertension and Aldosterone disorders
Description
This panel was created and is maintained by the KidGen Collaborative. It is a consensus panel used by VCGS.

This panel was updated in Nov'22 to include all hypertension and aldosterone disorders.
Panel Activity

7 reviewers

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Lilian Downie (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

22 Entities

22 reviewed, 21 green

List Entity Reviews Mode of inheritance Details
22 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)
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)
USP33
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Renal hypertension MONDO:0001105
Tags

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