Yilmaz et al 2018 reported heterozygous frameshift variant NM_004655.3;c.1045_1046delCT, p.L349fs*24 in 3 year old patient with sagittal craniosynostosis. ; Review on behalf of GOSH/Tracy Lester
Created: 5 Mar 2019, 11:33 a.m.
Oligodontia-colorectal cancer syndrome, 604025
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: AXIN2; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.
Added phenotypes Oligodontia-colorectal cancer syndrome 604025 for gene: AXIN2
gene: AXIN2 was added gene: AXIN2 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: AXIN2 was set to