Limb disorders
Gene: DVL3
DVL3 (dishevelled segment polarity protein 3)
EnsemblGeneIds (GRCh38): ENSG00000161202
EnsemblGeneIds (GRCh37): ENSG00000161202
OMIM: 601368, Gene2Phenotype
DVL3 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000161202
EnsemblGeneIds (GRCh37): ENSG00000161202
OMIM: 601368, Gene2Phenotype
DVL3 is in 8 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on list classification: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for Robinow syndrome, autosomal dominant 3. At least 5 variants reported.Created: 5 Apr 2018, 3:47 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Robinow syndrome, autosomal dominant 3 616894
- OMIM
- 601368
- Clinvar variants
- Variants in DVL3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
11 Dec 2018, Gel status: 3
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Sarah Leigh: Comment on list classification
5 Apr 2018, Gel status: 3
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
5 Apr 2018, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for DVL3 were set to 26924530
5 Apr 2018, Gel status: 1
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for DVL3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
5 Apr 2018, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for DVL3 were set to Robinow syndrome, autosomal dominant 3 616894
5 Apr 2018, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for DVL3 were set to 25529582
27 Nov 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to DVL3. Panel: Limb disorders
17 Nov 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)DVL3 was added to Limb disorders panel. Sources: Viapath
17 Nov 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)DVL3 was created by Ellen McDonagh