Skeletal dysplasia
Gene: DVL3
Mesomelic and rhizo-mesomelic dysplasias gp of SD. At least 3 cases reported. Only fs variants in final exons that escape NMD and lead to extension of reading frame and expression of a unique protein are pathogenic in Robinow.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Robinow syndrome, autosomal dominant 3, 616894
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: DVL3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Stittrich et al (PMID: 26924530 ) looked for variants in DVL3 in patients with Robinow syndrome and no previously identified mutation; because mutations had previously described in DVL1 and there was functional redundancy between the genes. They identified 4 de novo frameshift variants in their cohort of 17 patients.
Danyal et al (PMID: 29575616) identified a frame shift variant in a further patient with Robinow syndrome.
Sources: OtherCreated: 10 Sep 2018, 4:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Robinow syndrome, autosomal dominant 3 616894
Publications
Added phenotypes Robinow syndrome, autosomal dominant 3, 616894 for gene: DVL3
Source NHS GMS was added to DVL3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for gene: DVL3 were changed from Robinow syndrome, autosomal dominant 3 616894 to Robinow syndrome, autosomal dominant 3, 616894
Publications for gene: DVL3 were set to PMID: 26924530
Gene: dvl3 has been classified as Green List (High Evidence).
gene: DVL3 was added gene: DVL3 was added to Unexplained skeletal dysplasia. Sources: Other Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DVL3 were set to PMID: 26924530 Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3 616894 Penetrance for gene: DVL3 were set to unknown Review for gene: DVL3 was set to GREEN