Hypertension and Aldosterone disorders
Gene: WNK1EnsemblGeneIds (GRCh38): ENSG00000060237
EnsemblGeneIds (GRCh37): ENSG00000060237
OMIM: 605232, Gene2Phenotype
WNK1 is in 10 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
Wilson et al. (2001) reported 19 patients from 2 families with 2 deletions in intron 1. Functional studies showed overexpression of WNK1 with resulting biochemical anomalies, and mouse model with same phenotype.
Louis-Dit-Picard et al. (2020) reported 9 unrelated patients with 6 variants in exon 7 at highly conserved residues in acid motif which mediates interaction with KLHL3. Functional studies showing the variants abolish degradation by KLHL3.
Overall variants in WNK1 for PHA2C cause gain of function.Created: 4 Aug 2021, 9:24 p.m. | Last Modified: 4 Aug 2021, 9:24 p.m.
Panel Version: 1.0
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pseudohypoaldosteronism 2C (PHA2C)
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Teresa Zhao (Victorian Clinical Genetics Services)
Individuals with inherited hyperkalemic hyperchloremic acidosis carrying missense variants in the WNK1 gene that all cluster in the conserved acidic motif.
The present study (PMID: 32790646) suggests that mutations in the WNK1 acidic motif drive altered potassium metabolism primarily by increasing KS-WNK1 abundance.Created: 4 Jan 2021, 4:45 a.m. | Last Modified: 4 Jan 2021, 4:45 a.m.
Panel Version: 0.18
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pseudohypoaldosteronism type IIC (MIM#614492); Hereditary sensory and autonomic type II neuropathy (MIM#201300)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- KidGen_AldoHypertension v38.1.0
- Phenotypes
-
- Pseudohypoaldosteronism 2C (PHA2C), MIM#614492
- OMIM
- 605232
- Clinvar variants
- Variants in WNK1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WNK1 were changed from to Pseudohypoaldosteronism 2C (PHA2C), MIM#614492
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: WNK1 were set to
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: WNK1 was changed from to Other
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: WNK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: wnk1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WNK1 was added gene: WNK1 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0 Mode of inheritance for gene: WNK1 was set to Unknown