Skeletal dysplasia
Gene: HES7
characterized clinically by: a short trunk in proportion to height; Dysostoses with predominant vertebral with and without costal involvement gp of SD - at least 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 4, autosomal recessive 613686
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: HES7; 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, 12:54 p.m.
Tier 1Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylocostal dysostosis 4, autosomal recessive 613686
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Spondylocostal dysostosis 4, autosomal recessive 613686 for gene: HES7
Source NHS GMS was added to HES7. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for HES7 were set to Spondylocostal dysostosis 4, autosomal recessive 613686
Mode of inheritance for HES7 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
HES7 was added to Unexplained skeletal dysplasiapanel. Sources:
HES7 was created by sleigh