Limb disorders
Gene: DVL1EnsemblGeneIds (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 functionCreated: 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 reportedCreated: 28 Jul 2016, 10:41 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 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
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: DVL1 were set to 25817016
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: DVL1 were set to
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
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for DVL1 were set to Robinow syndrome, autosomal dominant 2, 616331
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
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to DVL1. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)DVL1 was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)DVL1 was created by Ellen McDonagh