Fetal anomalies
Gene: DVL1

DVL1 (dishevelled segment polarity protein 1)
EnsemblGeneIds (GRCh38): ENSG00000107404
EnsemblGeneIds (GRCh37): ENSG00000107404
OMIM: 601365, Gene2Phenotype
DVL1 is in 6 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Onset at birth - Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly . Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2.

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: 22 Nov 2021, 1:02 a.m. | Last Modified: 22 Nov 2021, 1:02 a.m.

Panel Version: 0.582

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Robinow syndrome, autosomal dominant 2 (MIM#616331)

Publications

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

Created: 22 Nov 2021, 1:02 a.m.
Last Modified: 22 Nov 2021, 1:02 a.m.
Panel version: 0.582

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Robinow syndrome, autosomal dominant 2 (MIM#616331)

OMIM

601365

Clinvar variants

Variants in DVL1

Penetrance

None

Publications

Panels with this gene