Pain syndromes

Gene: WNK1

Green List (high evidence)

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

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hereditary sensory and autonomic neuropathy type IIA
  • HSAN 2
  • Neuropathy, hereditary sensory and autonomic, type II, 201300
OMIM
605232
Clinvar variants
Variants in WNK1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Sep 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for WNK1 were set to Hereditary sensory and autonomic neuropathy type IIA;HSAN 2; Neuropathy, hereditary sensory and autonomic, type II, 201300

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for WNK1 were set to Hereditary sensory and autonomic neuropathy type IIA (HSAN 2); Neuropathy, hereditary sensory and autonomic, type II, 201300

9 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for WNK1 were set to Hereditary sensory and autonomic neuropathy type IIA (HSAN 2);Neuropathy, hereditary sensory and autonomic, type II; 201300

9 Jul 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for WNK1 were set to 15060842; 18521183; 21625937;15455397; 15911806; 16946995; 16636245

9 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

9 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

WNK1 was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene

9 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

WNK1 was created by BRIDGE