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Prepair 1000+

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 10 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The WNK1 gene is associated with both AD & AR conditions (OMIM).

For carrier screening testing, the only relevant condition is AR Neuropathy, hereditary sensory and autonomic, type II MIM#201300 (HSAN2) due to loss-of-function variants (PMID: 21089229 GeneReviews).

HSAN2 is characterized by progressively reduced sensation to pain, temperature, and touch. Inter- and intrafamilial phenotypic variability is reported (PMID: 21089229 GeneReviews).

Onset in infancy or early childhood. Slow progression. High disease prevalence among French-Canadians (OMIM).

NB: the AD phenotype associated with WNK1, pseudohypoaldosteronism, type IIC (MIM#614492) (PHA2C), is caused by gain-of-function intragenic deletions and missense variants (PMIDs: 32790646, 21089229).
Created: 5 Feb 2025, 12:22 a.m. | Last Modified: 5 Feb 2025, 12:22 a.m.
Panel Version: 1.1456

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type II MIM#201300
OMIM
605232
Clinvar variants
Variants in WNK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wnk1 has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WNK1 were changed from Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) to Neuropathy, hereditary sensory and autonomic, type II MIM#201300

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WNK1 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WNK1 was added gene: WNK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)