Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Limb disorders

Gene: DVL1

Green List (high evidence)

DVL1 (dishevelled segment polarity protein 1)
EnsemblGeneIds (GRCh38): ENSG00000107404
EnsemblGeneIds (GRCh37): ENSG00000107404
OMIM: 601365, Gene2Phenotype
DVL1 is in 7 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of pathogenicity: PMID:25817016 suggests known variants causing Robinow syndrome are gain of function
Created: 4 Dec 2018, 12:05 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 28 Jul 2016, 10:41 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Robinow syndrome, autosomal dominant 2 616331

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Robinow syndrome, autosomal dominant 2, 616331
OMIM
601365
Clinvar variants
Variants in DVL1
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 1

4 Dec 2018, Gel status: 4

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: DVL1 were set to 25817016

4 Dec 2018, Gel status: 4

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: DVL1 were set to

4 Dec 2018, Gel status: 4

Set mode of pathogenicity

Eleanor Williams (Genomics England Curator)

Mode of pathogenicity for gene: DVL1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

5 Apr 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for DVL1 were set to Robinow syndrome, autosomal dominant 2, 616331

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Radboud University Medical Center, Nijmegen was added to DVL1. Panel: Limb disorders UKGTN was added to DVL1. Panel: Limb disorders Expert Review Green was added to DVL1. Panel: Limb disorders Expert list was added to DVL1. Panel: Limb disorders Model of inheritance for gene DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to DVL1. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DVL1 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

DVL1 was created by Ellen McDonagh