Familial dysautonomia
Gene: WNK1

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

3 reviews

Horacio Kaufmann (Felicia B. Axelrod Professor of Dysautonomia Research, Department of Neurology, Department of Neurology, NYU School of Medicine, New York)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 8 Dec 2016, 1:18 p.m.

Panel version: 1.2

Alice Gardham (Genomics England)

Comment when marking as ready: Predominantly sensory problems but variable dysautonomia associated
Created: 17 Nov 2016, 3:50 p.m.

Created: 17 Nov 2016, 3:50 p.m.

Panel version: 0.47

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: Variants also reported in Pseudohypoaldosteronism, type IIC 614492
Created: 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

Created: 30 Aug 2016, 10:27 a.m.

Panel version: 0.28

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300

OMIM

605232

Clinvar variants

Variants in WNK1

Penetrance

Complete

Publications

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 to Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300

1 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.

17 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

30 Aug 2016, Gel status: 4