Skeletal dysplasia
Gene: DLL3
characterized clinically by: a short trunk in proportion to height, Dysostoses with predominant vertebral with and without costal involvement gp of SD. Several cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylocostal dysostosis 1, autosomal recessive 277300
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: DLL3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:44 p.m.
Tier 1Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylocostal dysostosis 1, autosomal recessive 277300
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Spondylocostal dysostosis 1, autosomal recessive 277300 for gene: DLL3
Source NHS GMS was added to DLL3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for DLL3 were set to Spondylocostal dysostosis 1, autosomal recessive 277300
Mode of inheritance for DLL3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
DLL3 was created by sleigh
DLL3 was added to Unexplained skeletal dysplasiapanel. Sources: