Yauy Genet Med 20:269 (2018) 6 patients from 4 unrelated families homozygous for c.667G>A (p.Gly223Ser) ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis and bone fragility
Comment on list classification: Upgrading from red to amber. Amber rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. The group decided to rate amber until there is more evidence for the gene-disease association.
Created: 21 May 2019, 4:09 p.m.
PMID: 28771243 - Yauy et al 2018 - six patients from four unrelated consanguineous families, all from Morocco. All sequenced patients showed a unique homozygous mutation of c.667G >A, p.Gly223Ser in the B3GAT3 gene. 3 patients from 2 families showed craniosynostosis.
Created: 14 May 2019, 12:27 p.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: B3GAT3; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.
Gene: b3gat3 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: B3GAT3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Craniosynostosis and bone fragility for gene: B3GAT3
Publications for gene: B3GAT3 were set to
gene: B3GAT3 was added gene: B3GAT3 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: B3GAT3 was set to