One of 4 cases reported by Vissers et al 2011 had coronal CSS. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Chondrodysplasia with joint dislocations, GPAPP type
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: IMPAD1; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.
Added phenotypes Chondrodysplasia with joint dislocations, GPAPP type for gene: IMPAD1
gene: IMPAD1 was added gene: IMPAD1 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: IMPAD1 was set to