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Intellectual disability syndromic and non-syndromic

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)

LD/ID reported in ~20% according to this cohort/literature review.
Created: 3 Mar 2020, 11:49 p.m. | Last Modified: 3 Mar 2020, 11:49 p.m.
Panel Version: 0.2361

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Robinow syndrome, autosomal dominant 1; OMIM# 180700

Publications

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

Details

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

History Filter Activity

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from WNT5A. Source Expert list was added to WNT5A. Mode of inheritance for gene WNT5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: WNT5A were changed from to Robinow syndrome, autosomal dominant 1; OMIM# 180700

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WNT5A was added gene: WNT5A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WNT5A was set to Unknown