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Limb disorders

Gene: DVL3

Green List (high evidence)

DVL3 (dishevelled segment polarity protein 3)
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