Hydrocephalus
Gene: WNT3EnsemblGeneIds (GRCh38): ENSG00000108379
EnsemblGeneIds (GRCh37): ENSG00000108379
OMIM: 165330, Gene2Phenotype
WNT3 is in 8 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Only one case reported with mutations to date. Watchlist. Presents with tetra-amelia in addition to hydrocephalusCreated: 9 May 2017, 1:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tetra-amelia syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Literature
- Phenotypes
-
- ?Tetra-amelia syndrome 1, OMIM:273395
- OMIM
- 165330
- Clinvar variants
- Variants in WNT3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: WNT3 were changed from Tetra-amelia syndrome to ?Tetra-amelia syndrome 1, OMIM:273395
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to WNT3.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Added New Source
Ellen McDonagh (Genomics England Curator)WNT3 was added to Hydrocephaluspanel. Source: Expert Review Amber
Added New Source
Helen Brittain (Genomics England Curator)WNT3 was added to Hydrocephaluspanel. Sources: Literature
Created
Helen Brittain (Genomics England Curator)WNT3 was created by helen.brittain