Extreme early-onset hypertension
Gene: WNK4
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
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.
Promoted 03/08/2016
Phenotypes for WNK4 were set to Pseudohypoaldosteronism, type IIB, 614491
This gene has been classified as Green List (High Evidence).
Mode of inheritance for WNK4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for WNK4 were set to 12107233; 12515852; 11498583
Publications for WNK4 were set to 12107233; 12515852; 11498583
WNK4 was added to Extreme early-onset hypertensionpanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
WNK4All sources for gene: WNK4 were removed
Phenotypes for gene WNK4 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492
Model of inheritance for gene WNK4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
WNK4 was added to Extreme early-onset hypertensionpanel. Sources: Expert