GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: DVL1

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

1 review

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, 11:52 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, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Robinow syndrome, autosomal dominant 2 616331

OMIM

601365

Clinvar variants

Variants in DVL1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: DVL1 was added gene: DVL1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DVL1 were set to Robinow syndrome, autosomal dominant 2 616331

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: DVL1