1. Panels
  2. Fetal anomalies
  3. WNT5A
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: WNT5A

Green List (high evidence)
WNT5A (Wnt family member 5A)
EnsemblGeneIds (GRCh38): ENSG00000114251
EnsemblGeneIds (GRCh37): ENSG00000114251
OMIM: 164975, Gene2Phenotype
WNT5A is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Robinow syndrome is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies.
Created: 3 Mar 2020, 11:49 p.m. | Last Modified: 21 Jan 2022, 1:50 a.m.
Panel Version: 0.2665

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Robinow syndrome, autosomal dominant 1; OMIM# 180700

Publications

Created: 3 Mar 2020, 11:49 p.m.
Last Modified: 21 Jan 2022, 1:50 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2361

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ID reported in this syndrome.
Created: 4 Dec 2019, 10:10 p.m. | Last Modified: 4 Dec 2019, 10:10 p.m.
Panel Version: 0.346

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Robinow syndrome, autosomal dominant 1; OMIM# 180700

Created: 4 Dec 2019, 10:10 p.m.
Last Modified: 4 Dec 2019, 10:10 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.346

Details

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

History Filter Activity

19 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: wnt5a has been classified as Green List (High Evidence).

19 Jan 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: WNT5A were changed from WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT to Robinow syndrome, autosomal dominant 1; OMIM# 180700

19 Jan 2022, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: WNT5A were set to

19 Jan 2022, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: WNT5A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WNT5A was added gene: WNT5A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WNT5A were set to WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT