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Newborns main panel

Gene: WNK4

Amber List (moderate evidence)
WNK4 (WNK lysine deficient protein kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000126562
EnsemblGeneIds (GRCh37): ENSG00000126562
OMIM: 601844, Gene2Phenotype
WNK4 is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 34622103 - 4WNK - 3 cases with same variants as seen in next PMID and R1185C and P561R. PMID: 33491560 - E562K, D564A, Q565E, D564H, P561L, and E560G
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Pseudohypoaldosteronism, type IIB
OMIM
601844
Clinvar variants
Variants in WNK4
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to WNK4. Added phenotypes Pseudohypoaldosteronism, type IIB for gene: WNK4 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to WNK4. Added phenotypes Pseudohypoaldosteronism, type IIB for gene: WNK4 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF was removed from gene: WNK4.

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to WNK4. Added phenotypes Pseudohypoaldosteronism, type IIB for gene: WNK4 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to WNK4. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF tag was added to gene: WNK4.

9 Mar 2023, Gel status: 2

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: WNK4 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pseudohypoaldosteronism, type IIB for gene: WNK4

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: WNK4 was added gene: WNK4 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: WNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown