Pulmonary arterial hypertension

Gene: KCNA5

Red List (low evidence)

KCNA5 (potassium voltage-gated channel subfamily A member 5)
EnsemblGeneIds (GRCh38): ENSG00000130037
EnsemblGeneIds (GRCh37): ENSG00000130037
OMIM: 176267, Gene2Phenotype
KCNA5 is in 2 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on publications: added evidence to indicate that variants in KCNK5 can affect the onset and severity of the disease process for PAH
Created: 19 Jun 2017, 2:27 p.m.
Mutations in KCNA5 have the potential to affect the onset and severity of the disease process (PMID: 25189502,19223935, 17641158, 26167679).Variation of the potassium channel KCNA5 was initially dentified in IPAH patients PMID:17267549 (2007), 25189502 (2014) suggesting a potential role in PAH development and penetrance, in that KCNA5 is a potential predisposition modulator to PAH. In PMID: 25189502 mutations within KCNA5 were identified as a ‘second hit’ in an index patient additional to a BMPR2 missense mutation leading to an early onset and severe phenotype, representing a rare case of genetic modification in PAH. In PMID: 27630060 (2016) genotype-phenotype correlation was performed on Fifty-seven PAH patients (28 idiopathic PAH, 29 associated PAH group I). Several mutations in different genes, classified as pathogenic by in silico analysis, were present in 26% of PAH patients. The most commonly involved gene was BMPR2 (12 patients) followed by ENG gene (9 patients). ACVRL1 and KCNA5 genes showed very low incidence of mutations (5 and 1 patients, respectively).
Created: 19 Jun 2017, 2:25 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Literature
Phenotypes
  • Idiopathic pulmonary arterial hypertension
  • IPAH
OMIM
176267
Clinvar variants
Variants in KCNA5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Jun 2017, Gel status: 0

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.

19 Jun 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for KCNA5 were set to 26387786; 17267549; 25189502; 26387786;19223935;17641158;26167679

14 Jun 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for KCNA5 were set to 26387786; 17267549; 25189502;26387786

9 Jun 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

KCNA5 was added to Pulmonary arterial hypertensionpanel. Sources: Literature

9 Jun 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

KCNA5 was created by LouiseD