Paroxysmal central nervous system disorders
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

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 2 Sep 2019, 2:37 p.m.
Last Modified: 2 Sep 2019, 2:37 p.m.
Panel version: 0.25

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Demoted WNK1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Created: 9 Sep 2019, 3:34 p.m. | Last Modified: 9 Sep 2019, 3:34 p.m.

Panel Version: 0.80

Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.

Panel Version: 0.26

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.

Panel Version: 0.23

Created: 2 Sep 2019, 1:39 p.m.
Last Modified: 2 Sep 2019, 1:39 p.m.
Panel version: 0.26

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Not a CNS disorder
Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.

Panel Version: 0.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 2 Sep 2019, 1:30 p.m.
Last Modified: 2 Sep 2019, 1:30 p.m.
Panel version: 0.22

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
NHS GMS
London North GLH
Wessex and West Midlands GLH

Phenotypes

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

OMIM

605232

Clinvar variants

Variants in WNK1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

28 Mar 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: WNK1 were changed from HSAN 2; Neuropathy, hereditary sensory and autonomic, type II, 201300; Hereditary sensory and autonomic neuropathy type IIA to Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300

24 Sep 2019, Gel status: 1