Familial dysautonomia
Gene: WNK1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Predominantly sensory problems but variable dysautonomia associatedCreated: 17 Nov 2016, 3:50 p.m.
Comment on phenotypes: Variants also reported in Pseudohypoaldosteronism, type IIC 614492Created: 30 Aug 2016, 10:37 a.m.
Associated with phenotype in OMIM, not in G2P / DD. At least nine variants reported in the nervous system–specific HSN2 exon of WNK1, with a second variant in either the HSN2 exon or other isoforms of WNK1. Mouse model suggest that homozygous LOF variants in WNK1 isoforms (without HSN2) may be lethal (PMID 14610273).Created: 30 Aug 2016, 10:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory and autonomic, type II 201300
Phenotypes for gene: WNK1 were changed from Neuropathy, hereditary sensory and autonomic, type II 201300 to Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300
Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
This gene has been classified as Green List (High Evidence).
Phenotypes for WNK1 were set to Neuropathy, hereditary sensory and autonomic, type II 201300
Publications for WNK1 were set to 18521183; 14610273; 15455397; 15060842
Publications for WNK1 were set to 18521183
WNK1 was added to Familial dysautonomiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
WNK1 was created by sleigh