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Intellectual disability

Gene: WNK3

Amber List (moderate evidence)

WNK3 (WNK lysine deficient protein kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000196632
EnsemblGeneIds (GRCh37): ENSG00000196632
OMIM: 300358, Gene2Phenotype
WNK3 is in 4 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is now enough evidence to promote this gene to Green at the next GMS review - at least 14 individuals from 6 unrelated families, all presenting with ID in association with variants in the WNK3 gene.
Created: 5 Jul 2022, 9:06 a.m. | Last Modified: 5 Jul 2022, 9:06 a.m.
Panel Version: 3.1619
Kury et al. 2022 (PMID: 35678782) reported 14 males from 6 unrelated families with hemizygous variants (3 LOF and 3 missense, predicted pathogenic) in the WNK3 gene. All (14/14) had DD/ID and variable other associations including seizures (5/13), mild microcephaly (6/13, ranging -2 to -2.4 SD) and structural brain malformations (7/10). Heterozygous mothers were all asymptomatic.
Created: 5 Jul 2022, 8:10 a.m. | Last Modified: 5 Jul 2022, 8:10 a.m.
Panel Version: 3.1618

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

Phenotypes
Intellectual disability, MONDO:0001071

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Listed as a candidate ID gene in PMID:26350204 (Grozeva et al., 2015) but the supporting article (PMID:18498374) reports a possible autism link, which is out of scope for this ID panel.
Created: 31 Oct 2017, 9:24 a.m.

Phenotypes
X_linked intellectual disability; XLID

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • X-linked intellectual disability, MONDO:0100284
Tags
Q3_22_rating
OMIM
300358
Clinvar variants
Variants in WNK3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Jul 2022, Gel status: 2

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

5 Jul 2022, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: WNK3 were set to 26350204

5 Jul 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: WNK3 were changed from X_linked intellectual disability; XLID to X-linked intellectual disability, MONDO:0100284

5 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: wnk3 has been classified as Amber List (Moderate Evidence).

5 Jul 2022, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: WNK3.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene WNK3 was set to ['26350204']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

WNK3 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

WNK3 was added to Intellectual disabilitypanel. Sources: Expert Review Red