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

10 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • chirag patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Lilian Downie (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Nicola Poplawski (South Australian Clinical Genetics Service)

  • Krithika Murali (Pathology Queensland)

  • Suzanna Lindsey-Temple (Liverpool Hospital)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Sarah Milton (Victorian Clinical Genetics Services)

38 Entities

38 reviewed, 22 green

List Entity Reviews Mode of inheritance Details
38 Entitiess
Green Green List (high evidence)
ABCC8
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Pulmonary arterial hypertension, MONDO:0015924, ABCC8-related
Tags
Green Green List (high evidence)
ACVRL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376
Tags
Green Green List (high evidence)
AQP1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Pulmonary arterial hypertension MONDO:0015924, AQP1-related
Tags
Green Green List (high evidence)
ATP13A3
3 reviews
3 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Tags
Green Green List (high evidence)
FOXF1 upstream regulatory region
FOXF1 upstream regulatory region
Region
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Tags
  • regulatory region
Green Green List (high evidence)
G6PC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Disease associations
  • 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
Disease associations
  • Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506
  • Pulmonary arterial hypertension
Tags
Green Green List (high evidence)
HRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Costello syndrome 218040
  • chILD, pulmonary arterial hypertension
Tags
Green Green List (high evidence)
KCNK3
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • 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
Disease associations
  • Pulmonary hypertension
Tags
Green Green List (high evidence)
NF1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Neurofibromatosis, type 1, MIM# 162200
  • Diffuse interstitial lung disease
  • Pulmonary hypertension
Tags
Green Green List (high evidence)
NFU1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • Pulmonary hypertension, primary, 7, MIM# 621248
Tags
Green Green List (high evidence)
TBX4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891
Tags
Amber Amber List (moderate evidence)
BMP10
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • Pulmonary arterial hypertension
Tags
Amber Amber List (moderate evidence)
GGCX
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Amber
Disease associations
  • 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
Disease associations
  • Pulmonary arterial hypertension MONDO:0015924, TET2-related
Tags
Red Red List (low evidence)
BMPR1A
1 review
1 red 		Unknown
Sources
  • ClinGen
  • Expert Review Red
Disease associations
  • Pulmonary arterial hypertension MONDO:0015924
Tags
  • disputed
Red Red List (low evidence)
BMPR1B
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • 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
Disease associations
  • Pulmonary arterial hypertension
Tags
Red Red List (low evidence)
FBLN2
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • Pulmonary arterial hypertension MONDO:0015924, PDGFD-related
Tags
Red Red List (low evidence)
RNF213
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Moyamoya disease, MONDO:0016820
Tags
Red Red List (low evidence)
SMAD1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Disease associations
  • 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
Disease associations
  • Pulmonary arterial hypertension MONDO:0015924, SMAD4-related
Tags
  • disputed

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