Pulmonary arterial hypertension

Gene: KCNK3

PMID: 28388887 pathogenic variant reported in an Asian patient with pulmonary arterial hypertension.

Created: 14 Aug 2017, 1:54 p.m.

Publications

• 28388887

Green List (high evidence)

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: KCNK3; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PPH gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given

Created: 6 Dec 2018, 2:01 p.m.

Comment on publications: Added PMID 28388887 (2017)- first replicative finding of channelopathy in an Asian population

Created: 19 Jun 2017, 2:17 p.m.

Comment on publications: added new paper-PMID: 27884767 (2017) new case for a likely pathogenic KCNK3 mutation c.565G>A giving rise to IPAH, this variant has not been reported perviously by in Ma et. al (2014). Also PMID:28388887 (2017) reports the first case of a patient carrying a pathogenic variant of KCNK3 from an Asian population.

Created: 19 Jun 2017, 2:16 p.m.

Comment on list classification: Changed status to Green as there are more than three unrelated cases in the literature to support association to PAH

Created: 19 Jun 2017, 2:14 p.m.

PMID: 23883380 (2013), three unlreated cases where KCNK3 variants caused Primary pulmonary hypertension. In the GeneReview for PAH PMID: 20301658 notes that most heritable PAH (75%) is caused by a pathogenic variant in BMPR2; pathogenic variants in other genes (i.e., ACVRL1, KCNK3, CAV1, SMAD9, BMPR1B,) are considerably less common (1-3%).

Created: 19 Jun 2017, 1:40 p.m.

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Idiopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension

Publications

• 24355637
• 23883380