Extreme early-onset hypertension

Gene: WNK4

Green List (high evidence)

WNK4 (WNK lysine deficient protein kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000126562
EnsemblGeneIds (GRCh37): ENSG00000126562
OMIM: 601844, Gene2Phenotype
WNK4 is in 2 panels

3 reviews

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Patricia Munroe (Queen Mary University of London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 3/4 sources. Two reviewers recommend Green. Variants in WNK4 are Loss of function and variants in WNK1 are gain of function (PMID 12515852)(contrary to the comments of one of the reviewers).
Created: 8 Jun 2016, 8:18 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Pseudohypoaldosteronism, type IIB, 614491
OMIM
601844
Clinvar variants
Variants in WNK4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 03/08/2016

8 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for WNK4 were set to Pseudohypoaldosteronism, type IIB, 614491

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

8 Jun 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for WNK4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Jun 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for WNK4 were set to 12107233; 12515852; 11498583

8 Jun 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for WNK4 were set to 12107233; 12515852; 11498583

8 Jun 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

WNK4 was added to Extreme early-onset hypertensionpanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

8 Jun 2016, Gel status: 0

clearsources

Sarah Leigh (Genomics England Curator)

WNK4All sources for gene: WNK4 were removed

7 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene WNK4 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492

7 Jun 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene WNK4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

WNK4 was added to Extreme early-onset hypertensionpanel. Sources: Expert