Description
This panel is used for clinical indication 'R188 Pulmonary arterial hypertension' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R188 Pulmonary arterial hypertension'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This panel includes genes and from BRIDGE consortium Tier 1 genes from NIHR BioResource – Rare Diseases Study (NIHRBR-RD) sent by Dr Karyn Megy, WGS Clinical Feedback Lead and incorporates pertinent genes associated to PAH. The following experts from the BRIDGE consortium NIHRBR-RD contributed : Professor Nicolas Morrell, Dr Simon Holden  (Cambridge University Hospitals NHS Foundation Trust), Dr Charaka Hadinnapola (Papworth Hospital NHS Foundation Trust), Dr Stefan Graf, Louise Daugherty, Dr Karyn Megy (NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust).

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • BRIDGE consortium (NIHRBR-RD)

    Group: Other
    Workplace: Other

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

18 Entities

18 reviewed, 10 green

List Entity Reviews Mode of inheritance Details
18 Entitiess
Green Green List (high evidence)
ACVRL1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Literature
  • NHS GMS
  • UKGTN
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2, 600376
  • Heritable pulmonary arterial hypertension
  • HPAH
Tags
Green Green List (high evidence)
ATP13A3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Heritable pulmonary arterial hypertension
  • HPAH
Tags
Green Green List (high evidence)
BMPR2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Pulmonary hypertension, familial primary, 1, with or without HHT, 178600
  • Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600
  • Idiopathic pulmonary arterial hypertension
  • IPAH
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Pulmonary arterial hypertension
  • Pulmonary venoocclusive disease 1, 265450
  • PVOD
Tags
Green Green List (high evidence)
EIF2AK4
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
  • NHS GMS
Phenotypes
  • Pulmonary venoocclusive disease 2, 234810
  • PVOD
  • pulmonary capillary hemangiomatosis
  • PCH
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Pulmonary arterial hypertension
  • Idiopathic pulmonary arterial hypertension
  • IPAH
Tags
Green Green List (high evidence)
ENG
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1, 187300
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Hereditary hemorrhagic telangiectasia
  • HHT
Tags
Green Green List (high evidence)
GDF2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Heritable pulmonary arterial hypertension
  • HPAH
Tags
Green Green List (high evidence)
KCNK3
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Literature
  • NHS GMS
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Pulmonary arterial hypertension
  • Pulmonary hypertension, primary, 4, 615344
Tags
Green Green List (high evidence)
SMAD9
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Pulmonary arterial hypertension
  • Pulmonary hypertension, primary, 2, 615342
Tags
Green Green List (high evidence)
SOX17
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Heritable pulmonary arterial hypertension
  • HPAH
Tags
Green Green List (high evidence)
TBX4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ischiocoxopodopatellar syndrome, 147891
  • Small patella syndrome
  • SPS
  • Idiopathic pulmonary arterial hypertension
  • IPAH
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Pulmonary arterial hypertension
Tags
Amber Amber List (moderate evidence)
AQP1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Heritable pulmonary arterial hypertension
  • HPAH
Tags
Amber Amber List (moderate evidence)
CAV1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Expert list
  • Literature
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pulmonary hypertension, primary, 3, 615343
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Pulmonary arterial hypertension
Tags
Red Red List (low evidence)
BMPR1B
1 review
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH
Tags
Red Red List (low evidence)
CBLN2
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
KCNA5
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH
Tags
Red Red List (low evidence)
SARS2
1 review
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SMAD1
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Literature
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH
  • heritable pulmonary arterial hypertension
  • HPAH
Tags
Red Red List (low evidence)
SMAD4
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Literature
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Pulmonary arterial hypertension
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Tags

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