Extreme early-onset hypertension
Gene: WNK1
Comment on mode of pathogenicity: Gain of function demonstrated by PMID 12515852Created: 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 promoterCreated: 7 Jun 2016, 12:22 p.m.
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
Promoted 03/08/2016
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
This gene has been classified as Green List (High Evidence).
Publications for WNK1 were set to 27082544; 11498583
Phenotypes for gene WNK1 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492
Publications for WNK1 were set to 27082544; 11498583
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
Model of inheritance for gene WNK1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
WNK1 was added to Extreme early-onset hypertensionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Phenotypes for gene WNK1 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492
WNK1 was added to Extreme early-onset hypertensionpanel. Sources: Expert