Two brothers with lower facial weakness, highly arched palate, scaphocephaly due to synostosis of the sagittal and metopic sutures, axial hypotonia, proximal muscle weakness, and mild scoliosis, compund het (Gonorazky Neuromusc Dis (2017). Not described in association with other biallelic mutations of this gene ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
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: SCN4A; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.
gene: SCN4A was added gene: SCN4A was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: SCN4A was set to