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Skeletal dysplasia

Gene: DVL3

Green List (high evidence)

DVL3 (dishevelled segment polarity protein 3)
EnsemblGeneIds (GRCh38): ENSG00000161202
EnsemblGeneIds (GRCh37): ENSG00000161202
OMIM: 601368, Gene2Phenotype
DVL3 is in 9 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Lester
Created: 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

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 6 Mar 2019, 11:36 a.m.

Rachel Jones (GSTT)

Green List (high evidence)

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: Other
Created: 10 Sep 2018, 4:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Robinow syndrome, autosomal dominant 3 616894

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Robinow syndrome, autosomal dominant 3, 616894
OMIM
601368
Clinvar variants
Variants in DVL3
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Robinow syndrome, autosomal dominant 3, 616894 for gene: DVL3

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to DVL3. Rating Changed from Green List (high evidence) to Green List (high evidence)

3 Oct 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DVL3 were changed from Robinow syndrome, autosomal dominant 3 616894 to Robinow syndrome, autosomal dominant 3, 616894

11 Sep 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DVL3 were set to PMID: 26924530

11 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dvl3 has been classified as Green List (High Evidence).

10 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Rachel Jones (GSTT)

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