Pain syndromes
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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary sensory and autonomic, type II; 201300

Publications

Created: 9 Jul 2017, 4:30 p.m.

Panel version: 0.3

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary sensory and autonomic neuropathy type IIA (HSAN 2)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Jul 2017, 4:30 p.m.

Panel version: 0.3

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Loss of all sensation
Created: 29 Jun 2017, 9:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary sensory and autonomic, type II 201300

Created: 29 Jun 2017, 9:10 a.m.

Panel version: Imported from "Pain" panel version 0.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

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 Hereditary sensory and autonomic neuropathy type IIA; HSAN 2; Neuropathy, hereditary sensory and autonomic, type II, 201300 to Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300

19 Sep 2017, Gel status: 4