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Pulmonary Arterial Hypertension v1.39 FLNA Zornitza Stark Marked gene: FLNA as ready
Pulmonary Arterial Hypertension v1.39 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.39 FLNA Zornitza Stark Classified gene: FLNA as Green List (high evidence)
Pulmonary Arterial Hypertension v1.39 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.38 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Pulmonary Arterial Hypertension. Sources: Expert Review
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FLNA were set to 33143682
Phenotypes for gene: FLNA were set to congenital emphysematous lung disease due to Filamin A loss-of-function variant, MONDO:0800135; Melnick-Needles syndrome, MIM# 309350
Review for gene: FLNA was set to GREEN
Added comment: Severe PAH can be a rare feature of FLNA-related disorders.
Sources: Expert Review
Pulmonary Arterial Hypertension v1.37 CAPNS1 Zornitza Stark Marked gene: CAPNS1 as ready
Pulmonary Arterial Hypertension v1.37 CAPNS1 Zornitza Stark Gene: capns1 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v1.37 CAPNS1 Zornitza Stark Classified gene: CAPNS1 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v1.37 CAPNS1 Zornitza Stark Gene: capns1 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v1.36 CAPNS1 Zornitza Stark gene: CAPNS1 was added
gene: CAPNS1 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: CAPNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPNS1 were set to 38230350
Phenotypes for gene: CAPNS1 were set to Hereditary pulmonary arterial hypertension MONDO:0017148, CAPNS1-related
Review for gene: CAPNS1 was set to AMBER
Added comment: Three individuals from two families reported with homozygous splice site variants.
Sources: Expert list
Pulmonary Arterial Hypertension v1.35 SOX17 Zornitza Stark Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension to Heritable pulmonary arterial hypertension, MONDO:0017148, SOX17-related
Pulmonary Arterial Hypertension v1.33 SMAD4 Zornitza Stark Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MIM#175050; Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, SMAD4-related
Pulmonary Arterial Hypertension v1.32 SMAD4 Zornitza Stark Tag disputed tag was added to gene: SMAD4.
Pulmonary Arterial Hypertension v1.32 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, SMAD4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.32 SMAD1 Zornitza Stark Tag disputed tag was added to gene: SMAD1.
Pulmonary Arterial Hypertension v1.32 SMAD1 Zornitza Stark Phenotypes for gene: SMAD1 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, SMAD1-related
Pulmonary Arterial Hypertension v1.31 SMAD1 Zornitza Stark reviewed gene: SMAD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, SMAD1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.31 NOTCH3 Zornitza Stark Phenotypes for gene: NOTCH3 were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension MONDO:0015924, NOTCH3-related
Pulmonary Arterial Hypertension v1.30 NOTCH3 Zornitza Stark Tag disputed tag was added to gene: NOTCH3.
Pulmonary Arterial Hypertension v1.30 NOTCH3 Zornitza Stark reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, NOTCH3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.30 BMPR1B Zornitza Stark Tag disputed tag was added to gene: BMPR1B.
Pulmonary Arterial Hypertension v1.30 BMPR1B Zornitza Stark reviewed gene: BMPR1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, BMPR1B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.30 PDGFD Zornitza Stark Marked gene: PDGFD as ready
Pulmonary Arterial Hypertension v1.30 PDGFD Zornitza Stark Gene: pdgfd has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v1.30 PDGFD Zornitza Stark gene: PDGFD was added
gene: PDGFD was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: PDGFD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFD were set to 33187088; 33971972
Phenotypes for gene: PDGFD were set to Pulmonary arterial hypertension MONDO:0015924, PDGFD-related
Review for gene: PDGFD was set to RED
Added comment: Rated as LIMITED by ClinGen.

10 unique variants (all missense) that have been reported in 10 probands in 2 publications (PMIDs: 33187088, 33971972) are included in this curation. 9 of these variants were observed in a cohort of 1647 idiopathic pulmonary arterial hypertension (IPAH) patients of European Ancestry as part of a case-control study. Variant aggregation analysis revealed a significant burden (p=0.0000172) of likely gene damaging PDGFD variants in the IPAH cohort as compared to a group of 18,819 European controls (PMID:33971972). Gelinas et al. also reported a missense PDGFD variant in a proband with IPAH (PMID:33187088). There is currently no functional evidence demonstrating a damaging effect of any of the reported PDGFD variants in humans.
Sources: Expert list
Pulmonary Arterial Hypertension v1.29 KLF2 Zornitza Stark Phenotypes for gene: KLF2 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, KLF2-related
Pulmonary Arterial Hypertension v1.28 KLF2 Zornitza Stark reviewed gene: KLF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, KLF2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.28 FBLN2 Zornitza Stark Marked gene: FBLN2 as ready
Pulmonary Arterial Hypertension v1.28 FBLN2 Zornitza Stark Gene: fbln2 has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v1.28 FBLN2 Zornitza Stark gene: FBLN2 was added
gene: FBLN2 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: FBLN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBLN2 were set to 33971972
Phenotypes for gene: FBLN2 were set to Pulmonary arterial hypertension MONDO:0015924, FBLN2-related
Review for gene: FBLN2 was set to RED
Added comment: LIMITED by ClinGen. Out of a cohort of 1647 idiopathic PAH cases, 3 rare predicted deleterious missense variants were identified in 6 unrelated individuals with one variant recurrent in four individuals. Gene-disease association also supported by tissue expression data.
Sources: Expert list
Pulmonary Arterial Hypertension v1.27 BMP10 Zornitza Stark Phenotypes for gene: BMP10 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, BMP10-related
Pulmonary Arterial Hypertension v1.26 BMP10 Zornitza Stark Publications for gene: BMP10 were set to 30578383
Pulmonary Arterial Hypertension v1.25 BMP10 Zornitza Stark reviewed gene: BMP10: Rating: AMBER; Mode of pathogenicity: None; Publications: 29843651, 33187088, 31661308, 30578383; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, BMP10-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.25 AQP1 Zornitza Stark Phenotypes for gene: AQP1 were changed from Pulmonary arterial hypertension MONDO:0015924, AQP2-related to Pulmonary arterial hypertension MONDO:0015924, AQP1-related
Pulmonary Arterial Hypertension v1.24 AQP1 Zornitza Stark edited their review of gene: AQP1: Changed phenotypes: Pulmonary arterial hypertension MONDO:0015924, AQP1-related
Pulmonary Arterial Hypertension v1.24 AQP1 Zornitza Stark Phenotypes for gene: AQP1 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, AQP2-related
Pulmonary Arterial Hypertension v1.23 AQP1 Zornitza Stark Publications for gene: AQP1 were set to 22683574; 29650961
Pulmonary Arterial Hypertension v1.22 AQP1 Zornitza Stark Classified gene: AQP1 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v1.22 AQP1 Zornitza Stark Gene: aqp1 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v1.21 AQP1 Zornitza Stark reviewed gene: AQP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37007933, 35627312; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, AQP2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.21 TET2 Zornitza Stark Marked gene: TET2 as ready
Pulmonary Arterial Hypertension v1.21 TET2 Zornitza Stark Gene: tet2 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v1.21 TET2 Zornitza Stark Classified gene: TET2 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v1.21 TET2 Zornitza Stark Gene: tet2 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v1.20 TET2 Zornitza Stark edited their review of gene: TET2: Changed rating: AMBER
Pulmonary Arterial Hypertension v1.20 TET2 Zornitza Stark gene: TET2 was added
gene: TET2 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: TET2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TET2 were set to 32192357
Phenotypes for gene: TET2 were set to Pulmonary arterial hypertension MONDO:0015924, TET2-related
Added comment: MODERATE by ClinGen.

TET2 was first reported in relation to autosomal dominant pulmonary arterial hypertension (PAH) in 2020 (Potus et al., PMID: 32192357). Out of a cohort of 2572 cases from the PAH biobank, 6 rare predicted deleterious likely germline variants including missense, nonsense, and frameshift variants were identified in 6 unrelated individuals. The relationship between TET2 and PAH is also supported by experimental evidence including tissue expression in controls and patients, biochemical function as a negative regulator of a proinflammatory response, and knock out TET2 mice exhibiting a PH phenotype.
Sources: Expert list
Pulmonary Arterial Hypertension v1.19 GGCX Zornitza Stark reviewed gene: GGCX: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: pulmonary arterial hypertension MONDO:0015924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.19 ABCC8 Zornitza Stark reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: pulmonary arterial hypertension MONDO:0015924, ABCC8-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.19 SOX17 Zornitza Stark reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Heritable pulmonary arterial hypertension, MONDO:0017148, SOX17-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.19 SMAD9 Zornitza Stark reviewed gene: SMAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, primary, 2 MIM#615342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.19 KDR Zornitza Stark commented on gene: KDR: DEFINITIVE by ClinGen.
Pulmonary Arterial Hypertension v1.19 KCNK3 Zornitza Stark reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, primary, 4 MIM#615344; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.19 GDF2 Zornitza Stark reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506, Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.19 CAV1 Zornitza Stark reviewed gene: CAV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, primary, 3 MIM#615343; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.19 BMPR2 Zornitza Stark reviewed gene: BMPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.19 ATP13A3 Zornitza Stark commented on gene: ATP13A3: DEFINITIVE by ClinGen.
Pulmonary Arterial Hypertension v1.19 KLK1 Zornitza Stark Marked gene: KLK1 as ready
Pulmonary Arterial Hypertension v1.19 KLK1 Zornitza Stark Gene: klk1 has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v1.19 KLK1 Zornitza Stark Classified gene: KLK1 as Red List (low evidence)
Pulmonary Arterial Hypertension v1.19 KLK1 Zornitza Stark Gene: klk1 has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v1.18 KLK1 Zornitza Stark reviewed gene: KLK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.18 KLK1 Sangavi Sivagnanasundram gene: KLK1 was added
gene: KLK1 was added to Pulmonary Arterial Hypertension. Sources: Other
Mode of inheritance for gene: KLK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLK1 were set to 31727138; 17573418
Phenotypes for gene: KLK1 were set to Pulmonary arterial hypertension MONDO:0015924
Review for gene: KLK1 was set to AMBER
Added comment: PMID: 31727138
screening of the biobank - 12 individuals with genetic variant in KLK1 relevant to PAH (not all were found to be hereditary). Assay showed that carriers of variants in KLK1 are less clinically severe compared to those who carry variants in BMPR2.

PMID: 17573418
Functional study using sensitive and specific type ELISAs to assay multiple panels of human tissue. KLK1 tissue was abundantly expressed in the pancreas and salivary gland and moderately expressed in the lungs.

Reviewed by ClinGen Pulmonary Hypertension GCEP on 30/8/2022 with limited evidence supporting gene-disease validation
Sources: Other
Pulmonary Arterial Hypertension v1.18 SMAD4 Bryony Thompson Classified gene: SMAD4 as Red List (low evidence)
Pulmonary Arterial Hypertension v1.18 SMAD4 Bryony Thompson Added comment: Comment on list classification: Disputed classification by ClinGen PH GCEP 21/11/2022
Pulmonary Arterial Hypertension v1.18 SMAD4 Bryony Thompson Gene: smad4 has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v1.17 SMAD1 Bryony Thompson Classified gene: SMAD1 as Red List (low evidence)
Pulmonary Arterial Hypertension v1.17 SMAD1 Bryony Thompson Added comment: Comment on list classification: Disputed gene curation by ClinGen PH VCEP 21/11/2022
Pulmonary Arterial Hypertension v1.17 SMAD1 Bryony Thompson Gene: smad1 has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v1.16 GGCX Bryony Thompson Marked gene: GGCX as ready
Pulmonary Arterial Hypertension v1.16 GGCX Bryony Thompson Gene: ggcx has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v1.16 GGCX Bryony Thompson Classified gene: GGCX as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v1.16 GGCX Bryony Thompson Gene: ggcx has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v1.15 GGCX Bryony Thompson gene: GGCX was added
gene: GGCX was added to Pulmonary Arterial Hypertension. Sources: ClinGen
Mode of inheritance for gene: GGCX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GGCX were set to 31727138
Phenotypes for gene: GGCX were set to pulmonary arterial hypertension MONDO:0015924
Review for gene: GGCX was set to AMBER
Added comment: Moderate gene-disease validity classification by the pulmonary hypertension GCEP (4/11/2022). All the genetic evidence is based on one study conducting a gene-based association analysis using 812 European IPAH cases and 12,771 European controls. There were 18 probands with GGCX variants identified.
Sources: ClinGen
Pulmonary Arterial Hypertension v1.14 Zornitza Stark HPO terms changed from to Pulmonary arterial hypertension, HP:0002092
List of related panels changed from to Pulmonary arterial hypertension; HP:0002092
Pulmonary Arterial Hypertension v1.13 KCNK3 Krithika Murali reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pulmonary Arterial Hypertension v1.13 SARS2 Zornitza Stark Marked gene: SARS2 as ready
Pulmonary Arterial Hypertension v1.13 SARS2 Zornitza Stark Gene: sars2 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.13 SARS2 Chirag Patel Classified gene: SARS2 as Green List (high evidence)
Pulmonary Arterial Hypertension v1.13 SARS2 Chirag Patel Gene: sars2 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.12 SARS2 Chirag Patel gene: SARS2 was added
gene: SARS2 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS2 were set to 24034276; 21255763; 33751860
Phenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845
Review for gene: SARS2 was set to GREEN
Added comment: HUPRA syndrome is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Six patients from 4 unrelated families reported - only 1 patient did not have PAH.
Sources: Literature
Pulmonary Arterial Hypertension v1.11 ATP13A3 Zornitza Stark Phenotypes for gene: ATP13A3 were changed from Pulmonary arterial hypertension to Primary pulmonary hypertension 5, MIM#265400
Pulmonary Arterial Hypertension v1.10 ATP13A3 Zornitza Stark reviewed gene: ATP13A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary pulmonary hypertension 5, MIM#265400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.10 NOTCH3 Zornitza Stark Phenotypes for gene: NOTCH3 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Arterial Hypertension v1.9 NOTCH3 Zornitza Stark Publications for gene: NOTCH3 were set to 19855400; 31868216; 24936512
Pulmonary Arterial Hypertension v1.8 NOTCH3 Zornitza Stark Classified gene: NOTCH3 as Red List (low evidence)
Pulmonary Arterial Hypertension v1.8 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v1.7 NOTCH3 Nicola Poplawski reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: PMID:33712516, 24936512; Phenotypes: 125310; Mode of inheritance: None
Pulmonary Arterial Hypertension v1.7 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Pulmonary Arterial Hypertension v1.7 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.7 G6PC3 Zornitza Stark Classified gene: G6PC3 as Green List (high evidence)
Pulmonary Arterial Hypertension v1.7 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.6 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Pulmonary Arterial Hypertension. Sources: Expert Review
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: G6PC3 were set to 19118303; 20799326; 25492228; 17318259; 20616219
Phenotypes for gene: G6PC3 were set to Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541; MONDO:0012930; Dursun syndrome, MIM# 612541
Review for gene: G6PC3 was set to GREEN
Added comment: Over 20 unrelated families reported, mouse models. Dursun syndrome describes a subset of patients with pulmonary hypertension.
Sources: Expert Review
Pulmonary Arterial Hypertension v1.5 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Pulmonary Arterial Hypertension v1.5 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.5 NFU1 Zornitza Stark Classified gene: NFU1 as Green List (high evidence)
Pulmonary Arterial Hypertension v1.5 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.4 NFU1 Zornitza Stark gene: NFU1 was added
gene: NFU1 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFU1 were set to 22077971; 25918518; 28470589; 31516295; 32669393; 31461310
Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711; Pulmonary hypertension in early infancy
Review for gene: NFU1 was set to GREEN
Added comment: Biallelic variants in this gene cause multiple mitochondrial dysfunctions syndrome, a severe neonatal onset disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, leukodystrophy, lactic acidosis, and early death.

More than 50% of infant patients are found to display significant PAH, which can initially be an isolated and prominent finding (PMID: 22077971; 25918518; 28470589; 31516295; 32669393). Pulmonary samples from NFU1-deficient individuals with PAH showed obstructive vasculopathy with proximal and acinar arterial involvement (PMID: 22077971).

Humanised rare model of NFU1 deficiency showed features of mitochondrial dysfunction comparable to those observed in patients and also developed PAH (PMID: 31461310)
Sources: Expert list
Pulmonary Arterial Hypertension v1.3 KDR Zornitza Stark Publications for gene: KDR were set to 31980491
Pulmonary Arterial Hypertension v1.2 KDR Zornitza Stark Classified gene: KDR as Green List (high evidence)
Pulmonary Arterial Hypertension v1.2 KDR Zornitza Stark Gene: kdr has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.1 KDR Zornitza Stark edited their review of gene: KDR: Changed rating: GREEN
Pulmonary Arterial Hypertension v1.1 KDR Zornitza Stark edited their review of gene: KDR: Added comment: Additional case-control and functional data, rated as STRONG by ClinGen.; Changed publications: 31980491, 29650961
Pulmonary Arterial Hypertension v1.1 SMAD9 Zornitza Stark Publications for gene: SMAD9 were set to
Pulmonary Arterial Hypertension v1.0 SMAD9 Elena Savva edited their review of gene: SMAD9: Added comment: Alt gene name SMAD8
gnomAD: pLI = 0. Most frequent NMD-pred PTC has 6 hets in the population, currently a VUS in ClinVar.

PMID: 29844917 - NMD PTC in a 14 year old patient with brain arteriovenous malformation, resulted in reduced phosphorylation of downstream SMAD4. Zebrafish knockdown model showed abnormal cerebral artery-to-vein connection.

PMID: 21920918 - NMD PTC in a patient with heritable pulmonary arterial hypertension. Functional studies on patient cells showed no significant effect in inducing miR-21, miR-27a or miR-100. ID1 (no OMIM) expression was significantly increased.

PMID: 19211612 - NMD PTC in a patient, paternally inherited (also affected with pulmonary arterial hypertension). Functional studies show the protein could not interact with SMAD4, and reduced transcriptional activation activity.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary Arterial Hypertension v1.0 SMAD9 Elena Savva reviewed gene: SMAD9: Rating: ; Mode of pathogenicity: None; Publications: PMID: 29844917, 21920918, 19211612; Phenotypes: Pulmonary hypertension, primary, 2 MIM#615342; Mode of inheritance: None
Pulmonary Arterial Hypertension v1.0 Zornitza Stark promoted panel to version 1.0
Pulmonary Arterial Hypertension v0.58 FOXF1 Zornitza Stark Marked gene: FOXF1 as ready
Pulmonary Arterial Hypertension v0.58 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.58 FOXF1 Zornitza Stark Classified gene: FOXF1 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.58 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.57 FOXF1 Zornitza Stark gene: FOXF1 was added
gene: FOXF1 was added to Pulmonary Arterial Hypertension. Sources: Expert Review
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXF1 were set to 23505205; 27071622; 27855150; 19500772
Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Review for gene: FOXF1 was set to GREEN
Added comment: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.

Over 50 families reported. Most are sporadic, but a few inherited, generally from mother, incomplete paternal imprinting of this gene has been suggested. Mechanism is LOF, many variants located in the DNA binding domain.
Sources: Expert Review
Pulmonary Arterial Hypertension v0.55 ABCC8 Zornitza Stark Marked gene: ABCC8 as ready
Pulmonary Arterial Hypertension v0.55 ABCC8 Zornitza Stark Gene: abcc8 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.55 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Pulmonary Arterial Hypertension v0.55 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.55 BMPR2 Zornitza Stark Marked gene: BMPR2 as ready
Pulmonary Arterial Hypertension v0.55 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.55 ENG Zornitza Stark Marked gene: ENG as ready
Pulmonary Arterial Hypertension v0.55 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.55 ENG Zornitza Stark Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300 to Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300; Pulmonary arterial hypertension
Pulmonary Arterial Hypertension v0.54 ENG Zornitza Stark Publications for gene: ENG were set to
Pulmonary Arterial Hypertension v0.53 GDF2 Zornitza Stark Marked gene: GDF2 as ready
Pulmonary Arterial Hypertension v0.53 GDF2 Zornitza Stark Gene: gdf2 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.53 GDF2 Zornitza Stark Phenotypes for gene: GDF2 were changed from Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506 to Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506; Pulmonary arterial hypertension
Pulmonary Arterial Hypertension v0.52 GDF2 Zornitza Stark Publications for gene: GDF2 were set to
Pulmonary Arterial Hypertension v0.51 KCNK3 Zornitza Stark Marked gene: KCNK3 as ready
Pulmonary Arterial Hypertension v0.51 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.51 SMAD9 Zornitza Stark Marked gene: SMAD9 as ready
Pulmonary Arterial Hypertension v0.51 SMAD9 Zornitza Stark Gene: smad9 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.51 SOX17 Zornitza Stark Marked gene: SOX17 as ready
Pulmonary Arterial Hypertension v0.51 SOX17 Zornitza Stark Gene: sox17 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.51 SOX17 Zornitza Stark Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3 MIM#613674 to Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension
Pulmonary Arterial Hypertension v0.50 SOX17 Zornitza Stark Publications for gene: SOX17 were set to
Pulmonary Arterial Hypertension v0.49 TBX4 Zornitza Stark Marked gene: TBX4 as ready
Pulmonary Arterial Hypertension v0.49 TBX4 Zornitza Stark Gene: tbx4 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.49 BMP10 Zornitza Stark Marked gene: BMP10 as ready
Pulmonary Arterial Hypertension v0.49 BMP10 Zornitza Stark Gene: bmp10 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.49 G6PD Zornitza Stark Marked gene: G6PD as ready
Pulmonary Arterial Hypertension v0.49 G6PD Zornitza Stark Added comment: Comment when marking as ready: Multiple reports of variants in G6PD reported in individuals with PAH, mechanism unclear.
Pulmonary Arterial Hypertension v0.49 G6PD Zornitza Stark Gene: g6pd has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.49 NOTCH3 Zornitza Stark Marked gene: NOTCH3 as ready
Pulmonary Arterial Hypertension v0.49 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.49 SMAD1 Zornitza Stark Marked gene: SMAD1 as ready
Pulmonary Arterial Hypertension v0.49 SMAD1 Zornitza Stark Gene: smad1 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.49 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Pulmonary Arterial Hypertension v0.49 SMAD4 Zornitza Stark Gene: smad4 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.49 BMPR1B Zornitza Stark Marked gene: BMPR1B as ready
Pulmonary Arterial Hypertension v0.49 BMPR1B Zornitza Stark Gene: bmpr1b has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v0.49 BMPR1B Zornitza Stark Publications for gene: BMPR1B were set to
Pulmonary Arterial Hypertension v0.48 BMPR1B Zornitza Stark Mode of pathogenicity for gene: BMPR1B was changed from None to Other
Pulmonary Arterial Hypertension v0.47 BMPR1B Zornitza Stark Mode of inheritance for gene: BMPR1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v0.46 BRAP Zornitza Stark Marked gene: BRAP as ready
Pulmonary Arterial Hypertension v0.46 BRAP Zornitza Stark Gene: brap has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v0.46 KDR Zornitza Stark Marked gene: KDR as ready
Pulmonary Arterial Hypertension v0.46 KDR Zornitza Stark Gene: kdr has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.46 KDR Zornitza Stark Classified gene: KDR as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.46 KDR Zornitza Stark Gene: kdr has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.45 KLF2 Zornitza Stark Marked gene: KLF2 as ready
Pulmonary Arterial Hypertension v0.45 KLF2 Zornitza Stark Gene: klf2 has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v0.45 EIF2AK4 Zornitza Stark Marked gene: EIF2AK4 as ready
Pulmonary Arterial Hypertension v0.45 EIF2AK4 Zornitza Stark Gene: eif2ak4 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.45 CAV1 Zornitza Stark Marked gene: CAV1 as ready
Pulmonary Arterial Hypertension v0.45 CAV1 Zornitza Stark Gene: cav1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.45 AQP1 Zornitza Stark Marked gene: AQP1 as ready
Pulmonary Arterial Hypertension v0.45 AQP1 Zornitza Stark Gene: aqp1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.45 AQP1 Zornitza Stark Publications for gene: AQP1 were set to
Pulmonary Arterial Hypertension v0.44 ATP13A3 Zornitza Stark Marked gene: ATP13A3 as ready
Pulmonary Arterial Hypertension v0.44 ATP13A3 Zornitza Stark Gene: atp13a3 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.44 ATP13A3 Zornitza Stark Phenotypes for gene: ATP13A3 were changed from to Pulmonary arterial hypertension
Pulmonary Arterial Hypertension v0.43 ATP13A3 Zornitza Stark Publications for gene: ATP13A3 were set to
Pulmonary Arterial Hypertension v0.42 ATP13A3 Zornitza Stark Mode of inheritance for gene: ATP13A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v0.41 KDR Zornitza Stark gene: KDR was added
gene: KDR was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDR were set to 31980491
Phenotypes for gene: KDR were set to Pulmonary hypertension
Review for gene: KDR was set to AMBER
Added comment: Two unrelated individuals with PAH and LoF variants reported; segregation evidence in one family.
Sources: Literature
Pulmonary Arterial Hypertension v0.40 NOTCH3 Bryony Thompson Classified gene: NOTCH3 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.40 NOTCH3 Bryony Thompson Gene: notch3 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.39 NOTCH3 Bryony Thompson gene: NOTCH3 was added
gene: NOTCH3 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOTCH3 were set to 19855400; 31868216; 24936512
Phenotypes for gene: NOTCH3 were set to Pulmonary arterial hypertension
Mode of pathogenicity for gene: NOTCH3 was set to Other
Review for gene: NOTCH3 was set to AMBER
Added comment: Mice with homozygous deletion of Notch3 do not develop pulmonary hypertension in response to hypoxic stimulation, and pulmonary hypertension can be successfully treated in mice by administration of DAPT, a gamma-secretase inhibitor that blocks activation of Notch3 in smooth muscle cells. Suggesting a gain-of-function mechanism. Two putative gain-of-function missense identified in two PAH cases.
Sources: Literature
Pulmonary Arterial Hypertension v0.38 BMP10 Bryony Thompson Classified gene: BMP10 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.38 BMP10 Bryony Thompson Gene: bmp10 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.37 BMP10 Bryony Thompson gene: BMP10 was added
gene: BMP10 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: BMP10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP10 were set to 30578383
Phenotypes for gene: BMP10 were set to Pulmonary arterial hypertension
Review for gene: BMP10 was set to AMBER
Added comment: A truncating mutation and a predicted loss-of-function missense variant were identified in BMP10 in two severely affected sporadic PAH female patients.
Sources: Literature
Pulmonary Arterial Hypertension v0.36 SMAD4 Bryony Thompson Classified gene: SMAD4 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.36 SMAD4 Bryony Thompson Added comment: Comment on list classification: Two reported cases with PAH
Pulmonary Arterial Hypertension v0.36 SMAD4 Bryony Thompson Gene: smad4 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.35 SMAD4 Bryony Thompson gene: SMAD4 was added
gene: SMAD4 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMAD4 were set to 21898662
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MIM#175050; Pulmonary arterial hypertension
Review for gene: SMAD4 was set to AMBER
Added comment: A missense with reduced in vitro signalling activity and a putative splice site mutation resulting in moderate transcript loss due to compromised splicing efficiency were identified in two PAH cases.
Sources: Literature
Pulmonary Arterial Hypertension v0.34 SMAD1 Bryony Thompson Classified gene: SMAD1 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.34 SMAD1 Bryony Thompson Gene: smad1 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.33 SMAD1 Bryony Thompson gene: SMAD1 was added
gene: SMAD1 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMAD1 were set to 21898662; 23478097
Phenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension
Review for gene: SMAD1 was set to AMBER
Added comment: One missense variant identified in a PAH case. Mouse model is consistent with pulmonary hypertension.
Sources: Literature
Pulmonary Arterial Hypertension v0.32 G6PD Bryony Thompson reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: None; Publications: 31913656, 30161219; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pulmonary Arterial Hypertension v0.32 G6PD Bryony Thompson Deleted their review
Pulmonary Arterial Hypertension v0.32 G6PD Bryony Thompson Classified gene: G6PD as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v0.32 G6PD Bryony Thompson Gene: g6pd has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v0.31 G6PD Bryony Thompson Mode of inheritance for gene: G6PD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pulmonary Arterial Hypertension v0.30 G6PD Bryony Thompson gene: G6PD was added
gene: G6PD was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: G6PD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: G6PD were set to 31913656; 30161219
Phenotypes for gene: G6PD were set to Pulmonary arterial hypertension
Review for gene: G6PD was set to AMBER
Added comment: One idiopathic PAH case had a missense that resulted in severe G6PD deficiency and another case had a missense associated with a 20% decrease in G6PD function. Inhibition of G6PD activity with a potent G6PD inhibitor, decreased haematopoietic stem cells in hypoxic mice, causing pulmonary hypertension.
Sources: Literature
Pulmonary Arterial Hypertension v0.29 KLF2 Bryony Thompson gene: KLF2 was added
gene: KLF2 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: KLF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLF2 were set to 28188237
Phenotypes for gene: KLF2 were set to Pulmonary arterial hypertension
Review for gene: KLF2 was set to RED
Added comment: A missense variant reported in a single PAH family.
Sources: Literature
Pulmonary Arterial Hypertension v0.28 BRAP Bryony Thompson gene: BRAP was added
gene: BRAP was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: BRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRAP were set to 30703135
Phenotypes for gene: BRAP were set to Pulmonary arterial hypertension
Review for gene: BRAP was set to AMBER
Added comment: A single BRAP missense variant in a Japanese family with PAH, with in vitro functional assays suggesting a gain-of-function.
Sources: Literature
Pulmonary Arterial Hypertension v0.27 ABCC8 Bryony Thompson Classified gene: ABCC8 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.27 ABCC8 Bryony Thompson Gene: abcc8 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.26 ABCC8 Bryony Thompson gene: ABCC8 was added
gene: ABCC8 was added to Pulmonary Arterial Hypertension. Sources: Literature
Mode of inheritance for gene: ABCC8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABCC8 were set to 31406341; 30354297
Phenotypes for gene: ABCC8 were set to Diabetes mellitus; Hypoglycaemia; Pulmonary arterial hypertension
Review for gene: ABCC8 was set to GREEN
Added comment: Twelve heterozygous variants identified in PAH cases. Included functional assessment and independent validation of the association with this gene.
Sources: Literature
Pulmonary Arterial Hypertension v0.25 SOX17 Bryony Thompson Classified gene: SOX17 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.25 SOX17 Bryony Thompson Gene: sox17 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.24 SOX17 Bryony Thompson reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650961, 31406341; Phenotypes: Vesicoureteral reflux 3 MIM#613674, Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary Arterial Hypertension v0.24 GDF2 Bryony Thompson Classified gene: GDF2 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.24 GDF2 Bryony Thompson Gene: gdf2 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.23 GDF2 Bryony Thompson reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650961, 31661308; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506, Pulmonary arterial hypertension; Mode of inheritance: None
Pulmonary Arterial Hypertension v0.23 ENG Bryony Thompson Classified gene: ENG as Green List (high evidence)
Pulmonary Arterial Hypertension v0.23 ENG Bryony Thompson Gene: eng has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.22 ENG Bryony Thompson reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30336550; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300, Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary Arterial Hypertension v0.22 BMPR1B Bryony Thompson reviewed gene: BMPR1B: Rating: RED; Mode of pathogenicity: Other; Publications: 22374147; Phenotypes: Acromesomelic dysplasia, Demirhan, Brachydactyly C/Symphalangism-like pheno, Brachydactyly type A2, Pulmonary arterial hypertension (PAH); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary Arterial Hypertension v0.22 ATP13A3 Bryony Thompson Classified gene: ATP13A3 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.22 ATP13A3 Bryony Thompson Gene: atp13a3 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.21 ATP13A3 Bryony Thompson reviewed gene: ATP13A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31798832, 30679663, 29650961; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary Arterial Hypertension v0.21 AQP1 Bryony Thompson Classified gene: AQP1 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.21 AQP1 Bryony Thompson Gene: aqp1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.20 AQP1 Bryony Thompson reviewed gene: AQP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683574, 29650961; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pulmonary Arterial Hypertension v0.20 TBX4 Bryony Thompson Classified gene: TBX4 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.20 TBX4 Bryony Thompson Gene: tbx4 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.19 TBX4 Bryony Thompson gene: TBX4 was added
gene: TBX4 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX4 were set to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891
Review for gene: TBX4 was set to GREEN
Added comment: Pulmonary arterial hypertension can be a feature of the condition caused by this gene.
Sources: Expert list
Pulmonary Arterial Hypertension v0.18 SOX17 Bryony Thompson gene: SOX17 was added
gene: SOX17 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX17 were set to Vesicoureteral reflux 3 MIM#613674
Pulmonary Arterial Hypertension v0.17 SMAD9 Bryony Thompson Classified gene: SMAD9 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.17 SMAD9 Bryony Thompson Gene: smad9 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.16 SMAD9 Bryony Thompson gene: SMAD9 was added
gene: SMAD9 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD9 were set to Pulmonary hypertension, primary, 2 MIM#615342
Review for gene: SMAD9 was set to GREEN
Added comment: Pulmonary arterial hypertension is the main feature of the condition caused by this gene.
Sources: Expert list
Pulmonary Arterial Hypertension v0.15 KCNK3 Bryony Thompson Classified gene: KCNK3 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.15 KCNK3 Bryony Thompson Gene: kcnk3 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.14 KCNK3 Bryony Thompson gene: KCNK3 was added
gene: KCNK3 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNK3 were set to Pulmonary hypertension, primary, 4 MIM#615344
Review for gene: KCNK3 was set to GREEN
Added comment: Pulmonary arterial hypertension is the main feature of the condition caused by this gene.
Sources: Expert list
Pulmonary Arterial Hypertension v0.13 GDF2 Bryony Thompson gene: GDF2 was added
gene: GDF2 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GDF2 were set to Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506
Pulmonary Arterial Hypertension v0.12 ENG Bryony Thompson gene: ENG was added
gene: ENG was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300
Pulmonary Arterial Hypertension v0.11 EIF2AK4 Bryony Thompson Classified gene: EIF2AK4 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.11 EIF2AK4 Bryony Thompson Gene: eif2ak4 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.10 EIF2AK4 Bryony Thompson gene: EIF2AK4 was added
gene: EIF2AK4 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2 MIM#234810
Review for gene: EIF2AK4 was set to GREEN
Added comment: Pulmonary hypertension is a feature of the condition
Sources: Expert list
Pulmonary Arterial Hypertension v0.9 CAV1 Bryony Thompson Classified gene: CAV1 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.9 CAV1 Bryony Thompson Added comment: Comment on list classification: Heterozygous variants cause PAH
Pulmonary Arterial Hypertension v0.9 CAV1 Bryony Thompson Gene: cav1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.8 CAV1 Bryony Thompson gene: CAV1 was added
gene: CAV1 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: CAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAV1 were set to Pulmonary hypertension, primary, 3 MIM#615343
Review for gene: CAV1 was set to GREEN
Added comment: Sources: Expert list
Pulmonary Arterial Hypertension v0.7 BMPR2 Bryony Thompson Classified gene: BMPR2 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.7 BMPR2 Bryony Thompson Gene: bmpr2 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.6 BMPR2 Bryony Thompson gene: BMPR2 was added
gene: BMPR2 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMPR2 were set to 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
Review for gene: BMPR2 was set to GREEN
Added comment: PAH is the major feature.
Sources: Expert list
Pulmonary Arterial Hypertension v0.5 BMPR1B Bryony Thompson gene: BMPR1B was added
gene: BMPR1B was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: BMPR1B was set to Unknown
Phenotypes for gene: BMPR1B were set to Pulmonary arterial hypertension
Pulmonary Arterial Hypertension v0.4 ATP13A3 Bryony Thompson gene: ATP13A3 was added
gene: ATP13A3 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: ATP13A3 was set to Unknown
Pulmonary Arterial Hypertension v0.3 AQP1 Bryony Thompson gene: AQP1 was added
gene: AQP1 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: AQP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AQP1 were set to Pulmonary arterial hypertension
Pulmonary Arterial Hypertension v0.2 ACVRL1 Bryony Thompson Classified gene: ACVRL1 as Green List (high evidence)
Pulmonary Arterial Hypertension v0.2 ACVRL1 Bryony Thompson Gene: acvrl1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v0.1 ACVRL1 Bryony Thompson gene: ACVRL1 was added
gene: ACVRL1 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376
Review for gene: ACVRL1 was set to GREEN
Added comment: Pulmonary arterial hypertension can be a feature of the condition.
Sources: Expert list
Pulmonary Arterial Hypertension v0.0 Bryony Thompson Added Panel Pulmonary Arterial Hypertension
Set panel types to: Royal Melbourne Hospital; Rare Disease; Victorian Clinical Genetics Services