Single case reported in the literature with E40* variant - has CSS Balasubramanian et al 2015. Other variants in this gene are associated with type 2&3 OI. CSS may be acquired phenomenon? ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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: CRTAP; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.
Added phenotypes Cole Carpenter for gene: CRTAP
Publications for gene: CRTAP were set to
gene: CRTAP was added gene: CRTAP was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: CRTAP was set to