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  3. KCNK3
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Extreme early-onset hypertension

Gene: KCNK3

Red List (low evidence)
KCNK3 (potassium two pore domain channel subfamily K member 3)
EnsemblGeneIds (GRCh38): ENSG00000171303
EnsemblGeneIds (GRCh37): ENSG00000171303
OMIM: 603220, Gene2Phenotype
KCNK3 is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Variants relevant for pulmonary hypertension
Created: 3 Aug 2016, 8:44 a.m.
Created: 3 Aug 2016, 8:44 a.m.

Panel version: 0.103

Fiona Karet (Universit y of Cambridge)

Red List (low evidence)

Phenotypes
Pulmonary HT

Created: 20 Jun 2016, 6:45 a.m.

Panel version: 0.78

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pulmonary hypertension, primary, 4, 615344
OMIM
603220
Clinvar variants
Variants in KCNK3
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 03/08/2016

3 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for KCNK3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

KCNK3 was added to Extreme early-onset hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen