Renal Tubulopathies and related disorders
Gene: WNK4

WNK4 (WNK lysine deficient protein kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000126562
EnsemblGeneIds (GRCh37): ENSG00000126562
OMIM: 601844, Gene2Phenotype
WNK4 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.

Caution: assessed as MODERATE by ClinGen. Although at least 9 individuals have been reported, all the reported variants are missense without other supportive functional or segregation data.
Created: 31 May 2021, 10:51 a.m. | Last Modified: 20 Oct 2022, 9:15 p.m.

Panel Version: 1.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pseudohypoaldosteronism, type IIB, MIM# 614491

Publications

Created: 31 May 2021, 10:51 a.m.
Last Modified: 20 Oct 2022, 9:15 p.m.
Panel version: Imported from Hypertension and Aldosterone disorders panel version 0.46

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
KidGen_AldoHypertension v38.1.0
Expert Review Green
KidGen_AldoHypertension v38.1.0

Phenotypes

Pseudohypoaldosteronism, type IIB, MIM# 614491

OMIM

601844

Clinvar variants

Variants in WNK4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WNK4 was added gene: WNK4 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green Mode of inheritance for gene: WNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WNK4 were set to 31044551; 22266938 Phenotypes for gene: WNK4 were set to Pseudohypoaldosteronism, type IIB, MIM# 614491

Renal Tubulopathies and related disorders Gene: WNK4