microcephaly and dysmorphic features, but no documented CSS in syndromic cases. Cunningham et al 2012 report variants associated with isolated single suture CSS: 5 /186 cases with missense variants enriched compared to controls. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
Resistance to insulin-like growth factor I
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: IGF1R; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.
Added phenotypes Resistance to insulin-like growth factor I for gene: IGF1R
gene: IGF1R was added gene: IGF1R was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: IGF1R was set to