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Pulmonary arterial hypertension v2.13 KDR Stefan Graf reviewed gene: KDR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33320693, 31980491; Phenotypes: pulmonary arterial hypertension, significantly reduced diffusing coefficient for carbon monoxide, late disease onset; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary arterial hypertension v2.13 KDR Ivone Leong edited their review of gene: KDR: Added comment: This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. This gene is also identified as a novel PAH disease gene in PMID:29650961, which was found in 4 cases and 0 in controls. Clingen has curated this gene-disease association and given it a Strong rating. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; Changed rating: GREEN
Pulmonary arterial hypertension v2.13 KDR Ivone Leong Tag watchlist was removed from gene: KDR.
Tag Q2_21_rating tag was added to gene: KDR.
Pulmonary arterial hypertension v2.13 KDR Ivone Leong Publications for gene: KDR were set to 31980491; 32880713; 33320693
Pulmonary arterial hypertension v2.12 KDR Ivone Leong Phenotypes for gene: KDR were changed from Pulmonary hypertension to Heritable pulmonary arterial hypertension, MONDO:0017148
Pulmonary arterial hypertension v2.11 KDR Ivone Leong Publications for gene: KDR were set to 31980491; 32880713
Pulmonary arterial hypertension v2.9 KDR Nicholas Morrell reviewed gene: KDR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33320693, PMID: 31980491; Phenotypes: Pulmonary arterial hypertension, low diffusion coefficient for carbon monoxide; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary arterial hypertension v2.7 KDR Ivone Leong Tag watchlist tag was added to gene: KDR.
Pulmonary arterial hypertension v2.7 KDR Ivone Leong Classified gene: KDR as Amber List (moderate evidence)
Pulmonary arterial hypertension v2.7 KDR Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM. Based on the available evidence this gene has been given an Amber rating.
Pulmonary arterial hypertension v2.7 KDR Ivone Leong Gene: kdr has been classified as Amber List (Moderate Evidence).
Pulmonary arterial hypertension v2.6 KDR Ivone Leong Added comment: Comment on publications: PMID: 32880713 describes a mouse model where Kdr was conditionally knocked out. Kdr knockout led to mild pulmonary hypertension under normoxia that worsened under hypoxia. Kdr knockout mice had significant increase in pulmonary arterial wall thickness, muscularization, and VEGFR-3+ endothelial cells obliterating the pulmonary artery vessel lumen.
Pulmonary arterial hypertension v2.6 KDR Ivone Leong Publications for gene: KDR were set to 31980491
Pulmonary arterial hypertension v2.4 KDR Zornitza Stark gene: KDR was added
gene: KDR was added to Pulmonary arterial hypertension. Sources: Expert list
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: Expert list