Hand and foot malformations
Gene: DVL1EnsemblGeneIds (GRCh38): ENSG00000107404
EnsemblGeneIds (GRCh37): ENSG00000107404
OMIM: 601365, Gene2Phenotype
DVL1 is in 6 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Only variants that result in truncation (located in the final 2 exons) have been reported as pathogenic. Pathogenic truncating variants that escape NMD have been shown to result in a gain of function with increased canonical WNT activity. The paternal allele is predicted to be imprinted, with the maternal allele expressed (geneimprint.com) however reports so far have been for de novo variants.Created: 16 Jan 2021, 1:22 a.m. | Last Modified: 16 Jan 2021, 1:22 a.m.
Panel Version: 0.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Robinow syndrome, autosomal dominant 2 (MIM#616331)
Publications
Kristin Rigbye (Victorian Clinical Genetics Services)
Only variants that result in truncation (located in the final 2 exons) have been reported as pathogenic. Pathogenic truncating variants that escape NMD have been shown to result in a gain of function with increased canonical WNT activity. The paternal allele is predicted to be imprinted, with the maternal allele expressed (geneimprint.com) however reports so far have been for de novo variants.Created: 12 Jan 2021, 5:06 a.m. | Last Modified: 12 Jan 2021, 5:06 a.m.
Panel Version: 0.6026
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Robinow syndrome, autosomal dominant 2 (MIM#616331)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert list
- Expert Review Green
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- NHS GMS
- Expert list
- Phenotypes
-
- Robinow syndrome, autosomal dominant 2, MIM# 616331
- OMIM
- 601365
- Clinvar variants
- Variants in DVL1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DVL1 was added gene: DVL1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: DVL1 were set to Robinow syndrome, autosomal dominant 2, MIM# 616331