Incidentalome
Gene: WNK2EnsemblGeneIds (GRCh38): ENSG00000165238
EnsemblGeneIds (GRCh37): ENSG00000165238
OMIM: 606249, Gene2Phenotype
WNK2 is in 1 panel
1 review
Melanie Marty (Victorian Clinical Genetics Services)
Germline variants identified in 15 patients (14 missense, 1 fs) diagnosed with serrated polyposis syndrome. Limited segregation studies in 2 families (1 sibling in each family). Functional studies suggested germline WNK2 variants affect protein function in the context of the MAPK pathway.
Sources: LiteratureCreated: 3 Nov 2022, 3:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Serrated polyposis syndrome
Publications
- PMID: 36270769
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Serrated polyposis syndrome
- OMIM
- 606249
- Clinvar variants
- Variants in WNK2
- Penetrance
- None
- Publications
-
- PMID: 36270769
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: wnk2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: wnk2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: wnk2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Melanie Marty (Victorian Clinical Genetics Services)gene: WNK2 was added gene: WNK2 was added to Incidentalome. Sources: Literature Mode of inheritance for gene: WNK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WNK2 were set to PMID: 36270769 Phenotypes for gene: WNK2 were set to Serrated polyposis syndrome Review for gene: WNK2 was set to AMBER