PanelApp (test)
  1. Panels
  2. Pulmonary Arterial Hypertension
Description
This panel is maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.

The content of this panel has been compared against the Genomics England 'Pulmonary Arterial Hypertension' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 27/07/2020.

The content of this panel has been aligned with curations by the ClinGen PAH GCEP, PMID 37422716, 07/08/2023.
Panel Activity

7 reviewers

  • Nicola Poplawski (South Australian Clinical Genetics Service)

  • Chirag Patel (Genetic Health Queensland)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Sangavi Sivagnanasundram (Melbourne Health)

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

33 Entities

33 reviewed, 18 green

List Entity Reviews Mode of inheritance Details
33 Entitiess
Green Green List (high evidence)
ABCC8
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diabetes mellitus
  • Hypoglycaemia
  • Pulmonary arterial hypertension
Tags
Green Green List (high evidence)
ACVRL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376
Tags
Green Green List (high evidence)
ATP13A3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Primary pulmonary hypertension 5, MIM#265400
Tags
Green Green List (high evidence)
BMPR2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600
  • Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600
  • Pulmonary venoocclusive disease 1 MIM#265450
Tags
Green Green List (high evidence)
CAV1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pulmonary hypertension, primary, 3 MIM#615343
Tags
Green Green List (high evidence)
EIF2AK4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pulmonary venoocclusive disease 2 MIM#234810
Tags
Green Green List (high evidence)
ENG
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300
  • Pulmonary arterial hypertension
Tags
Green Green List (high evidence)
FLNA
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • congenital emphysematous lung disease due to Filamin A loss-of-function variant, MONDO:0800135
  • Melnick-Needles syndrome, MIM# 309350
Tags
Green Green List (high evidence)
FOXF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Tags
Green Green List (high evidence)
G6PC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541
  • MONDO:0012930
  • Dursun syndrome, MIM# 612541
Tags
Green Green List (high evidence)
GDF2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506
  • Pulmonary arterial hypertension
Tags
Green Green List (high evidence)
KCNK3
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pulmonary hypertension, primary, 4 MIM#615344
Tags
Green Green List (high evidence)
KDR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pulmonary hypertension
Tags
Green Green List (high evidence)
NFU1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711
  • Pulmonary hypertension in early infancy
Tags
Green Green List (high evidence)
SARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845
Tags
Green Green List (high evidence)
SMAD9
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pulmonary hypertension, primary, 2 MIM#615342
Tags
Green Green List (high evidence)
SOX17
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Heritable pulmonary arterial hypertension, MONDO:0017148, SOX17-related
Tags
Green Green List (high evidence)
TBX4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891
Tags
Amber Amber List (moderate evidence)
AQP1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, AQP1-related
Tags
Amber Amber List (moderate evidence)
BMP10
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, BMP10-related
Tags
Amber Amber List (moderate evidence)
CAPNS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Hereditary pulmonary arterial hypertension MONDO:0017148, CAPNS1-related
Tags
Amber Amber List (moderate evidence)
G6PD
2 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pulmonary arterial hypertension
Tags
Amber Amber List (moderate evidence)
GGCX
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • pulmonary arterial hypertension MONDO:0015924
Tags
Amber Amber List (moderate evidence)
TET2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, TET2-related
Tags
Red Red List (low evidence)
BMPR1B
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Pulmonary arterial hypertension
Tags
  • disputed
Red Red List (low evidence)
BRAP
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pulmonary arterial hypertension
Tags
Red Red List (low evidence)
FBLN2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, FBLN2-related
Tags
Red Red List (low evidence)
KLF2
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, KLF2-related
Tags
Red Red List (low evidence)
KLK1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924
Tags
Red Red List (low evidence)
NOTCH3
3 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, NOTCH3-related
Tags
  • disputed
Red Red List (low evidence)
PDGFD
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, PDGFD-related
Tags
Red Red List (low evidence)
SMAD1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, SMAD1-related
Tags
  • disputed
Red Red List (low evidence)
SMAD4
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, SMAD4-related
Tags
  • disputed

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