Intellectual_disability
Gene: WNK3

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

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Details

Mode of Inheritance

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

Sources

Candidate gene (Grozeva et al, 2015)

Phenotypes

Intellectual disability

OMIM

300358

Clinvar variants

Variants in WNK3

Penetrance

Complete

Publications

PMID: 26350204

Panels with this gene

History Filter Activity

3 Apr 2024, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: WNK3 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

WNK3 was added to Intellectual_disabilitypanel. Sources: Candidate gene (Grozeva et al, 2015)