Four siblings of a consanguineous Saudi family had a homozygous 1-bp duplication in RSPRY1, all with CSS as part of skeletal dysplasia phenotype, comprising progressive spondyloepimetaphyseal dysplasia, short stature, microcephaly and facial dysmorphisms. No CSS in unrelated family with mutation ; 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: RSPRY1; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.
gene: RSPRY1 was added gene: RSPRY1 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: RSPRY1 was set to