Pulmonary arterial hypertension
Gene: KCNK3PMID: 28388887 pathogenic variant reported in an Asian patient with pulmonary arterial hypertension.Created: 14 Aug 2017, 1:54 p.m.
Publications
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 givenCreated: 6 Dec 2018, 2:01 p.m.
Comment on publications: Added PMID 28388887 (2017)- first replicative finding of channelopathy in an Asian populationCreated: 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 PAHCreated: 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.
Phenotypes for gene: KCNK3 were changed from Idiopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension; Pulmonary hypertension, primary, 4, 615344 to Pulmonary hypertension, primary, 4, OMIM:615344
Source NHS GMS was added to KCNK3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for KCNK3 were set to 20301658; 24951762; 24355637; 23883380; 26387786; 27884767;28388887
Panel reviews were assessed, and panel was revised according to reviews and further in-house curation.
KCNK3 was added to Pulmonary arterial hypertensionpanel. Sources: Expert list
Publications for KCNK3 were set to 20301658; 24951762; 24355637; 23883380; 26387786; 27884767
This gene has been classified as Green List (High Evidence).
Publications for KCNK3 were set to 20301658; 24951762; 24355637; 23883380; 26387786;27884767
Phenotypes for KCNK3 were set to Idiopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension; Pulmonary hypertension, primary, 4, 615344
Publications for KCNK3 were set to 20301658; 24951762; 24355637; 23883380;26387786
Phenotypes for KCNK3 were set to diopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension;Pulmonary hypertension, primary, 4, 615344
KCNK3 was added to Pulmonary arterial hypertensionpanel. Sources: Literature
KCNK3 was created by LouiseD