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Pulmonary Arterial Hypertension v1.19 KDR Zornitza Stark commented on gene: KDR: DEFINITIVE by ClinGen.
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 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 v0.41 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