Clefting
Gene: WNT3
WNT3 (Wnt family member 3)
EnsemblGeneIds (GRCh38): ENSG00000108379
EnsemblGeneIds (GRCh37): ENSG00000108379
OMIM: 165330, Gene2Phenotype
WNT3 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000108379
EnsemblGeneIds (GRCh37): ENSG00000108379
OMIM: 165330, Gene2Phenotype
WNT3 is in 8 panels
1 review
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Biallelic mutations described in only one consanguineous pedigree with Tetra-amelia syndrome (14872406). Evidence not enough to mark the gene as greenCreated: 31 May 2017, 11:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE; TETAMS
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE
- TETAMS
- OMIM
- 165330
- Clinvar variants
- Variants in WNT3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)WNT3 was added to Cleftingpanel. Sources: Expert Review Red
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)WNT3 was created by ellenmcdonagh