Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: OSTM1
An individual was reported with osteopetrosis, craniosynostosis, and Chiari malformation type 1 and two novel homozygous variants in OSTEM1. The first was a missense variant c.265T>A (p.Val122Asp), which was considered neutral. The second variant was a synonymous change (c.108C>T) but was predicted to create a new donor splice site and disrupt mRNA processing (PMID:23772242).Created: 23 Jul 2023, 5:06 p.m. | Last Modified: 23 Jul 2023, 5:07 p.m.
Panel Version: 4.144
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 5, OMIM:259720; craniosynostosis, MONDO:0015469
Publications
Mahmoud Adel et al 2013 report a boy with CSS. ; Review on behalf of Tracy Lester and Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Phenotypes
AR osteopetrosis 5
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: OSTM1; Suggested initial gene rating: redCreated: 5 Mar 2019, 11:21 a.m.
Phenotypes for gene: OSTM1 were changed from AR osteopetrosis 5 to Osteopetrosis, autosomal recessive 5, OMIM:259720; craniosynostosis, MONDO:0015469
Publications for gene: OSTM1 were set to
Mode of inheritance for gene: OSTM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes AR osteopetrosis 5 for gene: OSTM1
gene: OSTM1 was added gene: OSTM1 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: OSTM1 was set to