Skeletal dysplasia
Gene: MESP2
characterized clinically by: a short trunk in proportion to height, Dysostoses with predominant vertebral with and without costal involvement gp of SD >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylocostal dysostosis 2, autosomal recessive 608681
Publications
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: MESP2; 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, 12:58 p.m.
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylocostal dysostosis 2, autosomal recessive 608681
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Spondylocostal dysostosis 2, autosomal recessive 608681 for gene: MESP2 Publications for gene MESP2 were changed from to 15122512; 18485326
Source NHS GMS was added to MESP2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive 608681
Mode of inheritance for MESP2 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive 608681
This gene has been classified as Green List (High Evidence).
MESP2 was created by sleigh
MESP2 was added to Unexplained skeletal dysplasiapanel. Sources: