Skeletal dysplasia
Gene: DVL1
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 LesterCreated: 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
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: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 28 Jul 2016, 10:41 a.m.
Tier 1Created: 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
Added phenotypes Robinow syndrome, autosomal dominant 2 616331 for gene: DVL1 Publications for gene DVL1 were changed from to 25817016; 25817014
Source NHS GMS was added to DVL1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
DVL1 was added to Unexplained skeletal dysplasiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
Phenotypes for DVL1 were set to Robinow syndrome, autosomal dominant 2 616331
Mode of inheritance for DVL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
DVL1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
DVL1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
DVL1 was added to Unexplained skeletal dysplasiapanel. Sources:
DVL1 was created by sleigh