Extreme early-onset hypertension

Gene: WNK1

Green List (high evidence)

WNK1 (WNK lysine deficient protein kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000060237
EnsemblGeneIds (GRCh37): ENSG00000060237
OMIM: 605232, Gene2Phenotype
WNK1 is in 8 panels

2 reviews

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment on mode of pathogenicity: Gain of function demonstrated by PMID 12515852
Created: 8 Jun 2016, 7:52 a.m.
Comment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 3/4 sources. One reviewer recommends Green. Two GOF variants reported and association with GOF promoter variant.
Created: 7 Jun 2016, 12:46 p.m.
Comment on mode of pathogenicity: Over expression reported associated with two different intronic deletions in two patients and SNP near WNK1 promoter
Created: 7 Jun 2016, 12:22 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type II, 201300
  • Pseudohypoaldosteronism, type IIC, 614492
OMIM
605232
Clinvar variants
Variants in WNK1
Penetrance
Complete
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
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 mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for WNK1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

7 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).

7 Jun 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for WNK1 were set to 27082544; 11498583

7 Jun 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene WNK1 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492

7 Jun 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for WNK1 were set to 27082544; 11498583

7 Jun 2016, Gel status: 3

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for WNK1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

7 Jun 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene WNK1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

7 Jun 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

WNK1 was added to Extreme early-onset hypertensionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen

7 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene WNK1 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

WNK1 was added to Extreme early-onset hypertensionpanel. Sources: Expert