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  3. WNT5A
STRs in panel
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CAKUT

Gene: WNT5A

Amber List (moderate evidence)
WNT5A (Wnt family member 5A)
EnsemblGeneIds (GRCh38): ENSG00000114251
EnsemblGeneIds (GRCh37): ENSG00000114251
OMIM: 164975, Gene2Phenotype
WNT5A is in 8 panels

2 reviews

Catherine Snow (Genomics England)

Comment on list classification: WNT5A associated with Robinow syndrome. Although renal disorder is associated with syndrome limited known variants reported in literature. Lots of functional models in mice therefore rating as Amber due to lack of human variants
Created: 21 May 2020, 3:17 p.m. | Last Modified: 21 May 2020, 3:17 p.m.
Panel Version: 1.138
Created: 21 May 2020, 3:17 p.m.
Last Modified: 21 May 2020, 3:17 p.m.
Panel version: 1.138

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Renal anomalies in about a quarter.
Sources: Expert list
Created: 16 Jan 2020, 4:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Robinow syndrome, autosomal dominant 1, MIM#180700

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2020, 4:58 a.m.

Panel version: 1.41

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Robinow syndrome, autosomal dominant 1, MIM#180700
OMIM
164975
Clinvar variants
Variants in WNT5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2020, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: wnt5a has been classified as Amber List (Moderate Evidence).

21 May 2020, Gel status: 0

Set publications

Catherine Snow (Genomics England)

Publications for gene: WNT5A were set to 27002738; 31032853

21 May 2020, Gel status: 0

Set publications

Catherine Snow (Genomics England)

Publications for gene: WNT5A were set to 27002738

21 May 2020, Gel status: 0

Set publications

Catherine Snow (Genomics England)

Publications for gene: WNT5A were set to

16 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: WNT5A was added gene: WNT5A was added to CAKUT. Sources: Expert list Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1, MIM#180700 Review for gene: WNT5A was set to GREEN gene: WNT5A was marked as current diagnostic