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Fetal anomalies

Gene: WNK3

Green List (high evidence)
WNK3 (WNK lysine deficient protein kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000196632
EnsemblGeneIds (GRCh37): ENSG00000196632
OMIM: 300358, Gene2Phenotype
WNK3 is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Soo-Mi Park (Cambridge University Hospital NHS Foundation Trust)

Green List (high evidence)

Green gene on R27, R29, R59. Rare X-linked recessive disorder characterised by variable DD/ID, mild dysmorphic facial features, behavioral or neuropsychiatric symptoms (ADHD, ASD, aggression), mild microcephaly (-2SD), epilepsy, variable structural brain abnormalities (polymicrogyria, subcortical cerebral atrophy, subependymal heterotopia). Tested mothers were asymptomatic heterozygotes. WNK3 pathogenic variants detected in in 14 male individuals from 6 unrelated families. No prenatal cases described but the brain malformations described in the majority of affected individuals can be detected antenatally, especially by fetal MRI scan.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Prieto syndrome, OMIM:309610

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Prieto syndrome, OMIM:309610
OMIM
300358
Clinvar variants
Variants in WNK3
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Prieto syndrome, OMIM:309610 for gene: WNK3

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: WNK3 was added gene: WNK3 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: WNK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females