Pulmonary arterial hypertension

Gene: KCNK3

Green List (high evidence)

KCNK3 (potassium two pore domain channel subfamily K member 3)
EnsemblGeneIds (GRCh38): ENSG00000171303
EnsemblGeneIds (GRCh37): ENSG00000171303
OMIM: 603220, Gene2Phenotype
KCNK3 is in 2 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

PMID: 28388887 pathogenic variant reported in an Asian patient with pulmonary arterial hypertension.
Created: 14 Aug 2017, 1:54 p.m.

Publications

Louise Daugherty (Genomics England Curator)

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.

BRIDGE consortium (NIHRBR-RD)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Pulmonary arterial hypertension
  • Pulmonary hypertension, primary, 4, 615344
OMIM
603220
Clinvar variants
Variants in KCNK3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to KCNK3. Rating Changed from Green List (high evidence) to Green List (high evidence)

14 Aug 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KCNK3 were set to 20301658; 24951762; 24355637; 23883380; 26387786; 27884767;28388887

22 Jun 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further in-house curation.

22 Jun 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

KCNK3 was added to Pulmonary arterial hypertensionpanel. Sources: Expert list

19 Jun 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for KCNK3 were set to 20301658; 24951762; 24355637; 23883380; 26387786; 27884767

19 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Jun 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for KCNK3 were set to 20301658; 24951762; 24355637; 23883380; 26387786;27884767

19 Jun 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KCNK3 were set to Idiopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension; Pulmonary hypertension, primary, 4, 615344

14 Jun 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for KCNK3 were set to 20301658; 24951762; 24355637; 23883380;26387786

14 Jun 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KCNK3 were set to diopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension;Pulmonary hypertension, primary, 4, 615344

9 Jun 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

KCNK3 was created by LouiseD

9 Jun 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

KCNK3 was added to Pulmonary arterial hypertensionpanel. Sources: Literature