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  2. Pulmonary Arterial Hypertension
  3. KCNK3
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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 9 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen.
Created: 8 Aug 2023, 5:20 a.m. | Last Modified: 8 Aug 2023, 5:20 a.m.
Panel Version: 1.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary hypertension, primary, 4 MIM#615344

Created: 8 Aug 2023, 5:20 a.m.
Last Modified: 8 Aug 2023, 5:20 a.m.
Panel version: 1.19

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

LoF variants associated with PPAH
GoF variants associated with neurodevelopmental disorder
Created: 6 Oct 2022, 1:14 a.m. | Last Modified: 6 Oct 2022, 1:14 a.m.
Panel Version: 1.13
Created: 6 Oct 2022, 1:14 a.m.
Last Modified: 6 Oct 2022, 1:14 a.m.
Panel version: 1.13

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Pulmonary arterial hypertension is the main feature of the condition caused by this gene.
Sources: Expert list
Created: 23 Jan 2020, 12:27 a.m.

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

Phenotypes
Pulmonary hypertension, primary, 4 MIM#615344

Created: 23 Jan 2020, 12:27 a.m.

Panel version: 0.14

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pulmonary hypertension, primary, 4 MIM#615344
OMIM
603220
Clinvar variants
Variants in KCNK3
Penetrance
None
Panels with this gene

History Filter Activity

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnk3 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kcnk3 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: KCNK3 was added gene: KCNK3 was added to Pulmonary Arterial Hypertension. Sources: Expert list Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNK3 were set to Pulmonary hypertension, primary, 4 MIM#615344 Review for gene: KCNK3 was set to GREEN