Pulmonary Arterial Hypertension
Gene: KDR
DEFINITIVE by ClinGen.Created: 8 Aug 2023, 5:21 a.m. | Last Modified: 8 Aug 2023, 5:21 a.m.
Panel Version: 1.19
Additional case-control and functional data, rated as STRONG by ClinGen.Created: 11 May 2021, 11 a.m. | Last Modified: 11 May 2021, 11 a.m.
Panel Version: 1.1
Two unrelated individuals with PAH and LoF variants reported; segregation evidence in one family.
Sources: LiteratureCreated: 4 Feb 2020, 2:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pulmonary hypertension
Publications
Publications for gene: KDR were set to 31980491
Gene: kdr has been classified as Green List (High Evidence).
Gene: kdr has been classified as Amber List (Moderate Evidence).
Gene: kdr has been classified as Amber List (Moderate Evidence).
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