Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: WNT5AEnsemblGeneIds (GRCh38): ENSG00000114251
EnsemblGeneIds (GRCh37): ENSG00000114251
OMIM: 164975, Gene2Phenotype
WNT5A is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Renal anomalies in about a quarter.
Sources: Expert listCreated: 28 Nov 2019, 6:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Robinow syndrome, autosomal dominant 1, MIM#180700
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Robinow syndrome, autosomal dominant 1, MIM#180700
- OMIM
- 164975
- Clinvar variants
- Variants in WNT5A
- Penetrance
- None
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Mendeliome
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Hand and foot malformations
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wnt5a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wnt5a has been classified as Green List (High Evidence).
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 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. 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