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  2. Skeletal Dysplasia_Fetal
  3. WNT5A
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Skeletal Dysplasia_Fetal

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Associated mesomelic/rhizomelic can be detected prenatally.
Sources: Expert list, Literature
Created: 19 Sep 2022, 11:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Robinow syndrome, autosomal dominant 1; OMIM# 180700

Publications

Created: 19 Sep 2022, 11:39 p.m.

Panel version: 0.91

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • 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

21 Sep 2022, 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).

21 Sep 2022, 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).

19 Sep 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: WNT5A was added gene: WNT5A was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WNT5A were set to 17256787 Phenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1; OMIM# 180700 Review for gene: WNT5A was set to GREEN