Description
Extreme early-onset hypertension eligibility statement:

Extreme early-onset hypertension inclusion criteria (29672)
- Hypertension (defined in adults by blood pressure > 160/100 in clinic AND average BP of 150/95 on ambulatory blood pressure monitoring) occurring below the age of 30.

Extreme early-onset hypertension exclusion criteria (29672)
- Primary hyperaldosteronism, phaeochromocytoma, Cushing's syndrome and hyper/hypothyroidism

Prior genetic testing guidance (29672)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Closing statement (29672)
These requirements will be kept under continual review during the main programme and may be subject to change.

4 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Patricia Munroe (Queen Mary University of London)

    Group: GeCIP domain
    Workplace: Research lab

  • Fiona Karet (Universit y of Cambridge)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

25 genes

25 reviewed, 13 green

List Gene Reviews Mode of inheritance Details
25 genes
Green Green List (high evidence)
CUL3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Pseudohypoaldosteronism, type IIE, 614496
Green Green List (high evidence)
CYP11B1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
Phenotypes
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010
  • Aldosteronism, glucocorticoid-remediable, 103900
  • Early onset hypertension with raised urinary 18-hydroxy-steroids
  • steroid-sensitive.
Green Green List (high evidence)
CYP11B2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aldosterone to renin ratio raised, Glucucorticoid-remediable hyperaldosteronsim
Green Green List (high evidence)
CYP17A1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • 17,20-lyase deficiency, isolated 202110
  • 17-alpha-hydroxylase/17,20-lyase deficiency 202110
Green Green List (high evidence)
HSD11B2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Expert Review Green
  • Literature
  • UKGTN
Phenotypes
  • Apparent mineralocorticoid excess, 218030
Green Green List (high evidence)
KCNJ5
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Hyperaldosteronism, familial, type III 613677
Green Green List (high evidence)
KLHL3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Pseudohypoaldosteronism, type IID, 614495
Green Green List (high evidence)
NR3C1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
Phenotypes
  • Glucocorticoid resistance 615962
Green Green List (high evidence)
NR3C2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115
Green Green List (high evidence)
SCNN1B
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
  • Expert Review Green
Phenotypes
  • Bronchiectasis with or without elevated sweat chloride 1 211400
  • Liddle syndrome, 177200
  • Pseudohypoaldosteronism, type I, 264350
Green Green List (high evidence)
SCNN1G
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
Phenotypes
  • Bronchiectasis with or without elevated sweat chloride 3, 613071
  • Liddle syndrome, 177200
  • Pseudohypoaldosteronism, type I, 264350
Green Green List (high evidence)
WNK1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type II, 201300
  • Pseudohypoaldosteronism, type IIC, 614492
Green Green List (high evidence)
WNK4
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Pseudohypoaldosteronism, type IIB, 614491
Amber Amber List (moderate evidence)
CACNA1H
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Hyperaldosteronism, familial, type IV 617027
  • {Epilepsy, childhood absence, susceptibility to, 6} 611942
  • {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942
Red Red List (low evidence)
AGT
1 review
Unknown
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • {Hypertension, essential, susceptibility to}, 145500
  • {Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430
Red Red List (low evidence)
AGTR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Hypertension, essential, 145500
  • Renal tubular dysgenesis, 267430
Red Red List (low evidence)
BMPR2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pulmonary hypertension, familial primary, 1, with or without HHT, 178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600, Pulmonary venoocclusive disease 1, 265450
Red Red List (low evidence)
CAV1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 3, 612526
  • Pulmonary hypertension, primary, 3, 615343
Red Red List (low evidence)
CPS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Carbamoylphosphate synthetase I deficiency, 237300
  • {Pulmonary hypertension, neonatal, susceptibility to}, 615371
  • {Venoocclusive disease after bone marrow transplantation}
Red Red List (low evidence)
CYP21A2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 201910
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 201910
Red Red List (low evidence)
KCNK3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pulmonary hypertension, primary, 4, 615344
Red Red List (low evidence)
PNMT
1 review
Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Red Red List (low evidence)
PTGIS
1 review
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypertension, essential, 145500
Red Red List (low evidence)
SARS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
Red Red List (low evidence)
SMAD9
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Pulmonary hypertension, primary, 2 615342

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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