Skeletal dysplasia
Gene: DVL1

DVL1 (dishevelled segment polarity protein 1)
EnsemblGeneIds (GRCh38): ENSG00000107404
EnsemblGeneIds (GRCh37): ENSG00000107404
OMIM: 601365, Gene2Phenotype
DVL1 is in 7 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Mesomelic and rhizo-mesomelic dysplasias gp of SD. Several 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 2 616331

Publications

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

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

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: DVL1; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

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

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 28 Jul 2016, 10:41 a.m.

Created: 28 Jul 2016, 10:41 a.m.

Panel version: 0.849

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 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

Created: 17 Jun 2016, 8:03 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
UKGTN
Radboud University Medical Center, Nijmegen
Expert Review Green
Expert list

Phenotypes

Robinow syndrome, autosomal dominant 2 616331
Robinow syndrome, autosomal dominant 2 616331

OMIM

601365

Clinvar variants

Variants in DVL1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Robinow syndrome, autosomal dominant 2 616331 for gene: DVL1 Publications for gene DVL1 were changed from to 25817016; 25817014

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to DVL1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4