Extreme early-onset hypertension
Gene: WNK1

WNK1 (WNK lysine deficient protein kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000060237
EnsemblGeneIds (GRCh37): ENSG00000060237
OMIM: 605232, Gene2Phenotype
WNK1 is in 7 panels

2 reviews

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

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.

Created: 7 Jun 2016, 12:22 p.m.

Panel version: 0.52

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, OMIM:201300
Pseudohypoaldosteronism, type IIC, OMIM: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

28 Mar 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: WNK1 were changed from Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492 to Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300; Pseudohypoaldosteronism, type IIC, OMIM:614492

3 Aug 2016, Gel status: 4