Interstitial Lung Disease

Gene: KCNK3

Amber List (moderate evidence)

KCNK3 (potassium two pore domain channel subfamily K member 3)
EnsemblGeneIds (GRCh38): ENSG00000171303
EnsemblGeneIds (GRCh37): ENSG00000171303
OMIM: 603220, Gene2Phenotype
KCNK3 is in 9 panels

1 review

Suzanna Lindsey-Temple (Liverpool Hospital)

I don't know

The KCNK3 gene (alias Task-1) encodes a voltage-sensitive potassium channel which is expressed in pulmonary artery smooth muscle cells.

PMID: 23883380 - KCNK3 missense variants with incomplete penetrance have been identified in several families with adult-onset PAH.

PMID: 27649371- Single report of homozygous missense variant in KCNK3(c.316G>C; p.Gly106Arg) in a paediatric case of PAH. The child was diagnosed at the age of 2 months with a severe form of PAH and he underwent lung transplantation at the age of 5 years. His mother who was a heterozygous carrier was diagnosed at the age of 19, one year after giving birth, of severe PAH, requiring bilateral lung transplantation 26 months after diagnosis. The child’s father was an asymptomatic carrier of the same mutation in KCNK3. The authors hypothesize that in PAH due to mutations in KCNK3 incomplete dominance with worsening of the clinical features for homozygous carriers might be observed.
Created: 6 Nov 2021, 11:03 p.m. | Last Modified: 6 Nov 2021, 11:03 p.m.
Panel Version: 0.183

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Pulmonary arterial hypertension.

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Pulmonary hypertension, primary, 4 MIM#615344
OMIM
603220
Clinvar variants
Variants in KCNK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnk3 has been classified as Amber List (Moderate Evidence).

8 Nov 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNK3 were changed from to Pulmonary hypertension, primary, 4 MIM#615344

8 Nov 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNK3 were set to

8 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnk3 has been classified as Amber List (Moderate Evidence).

6 Nov 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance

Suzanna Lindsey-Temple (Liverpool Hospital)

gene: KCNK3 was added gene: KCNK3 was added to Interstitial Lung Disease. Sources: Expert list Mode of inheritance for gene: KCNK3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal