Vissers et al 2011 report CSS in 3/104 cases but the variants in these cases are also in controls (from Zollino et al). Evidence in original paper poor quality and no independent confirmation. Biallelic FREM1 mutations do cause FND (AW) ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
bifid nose; Manitoba oculotrichoanal syndrome; trigonocephaly
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: FREM1; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.
One de novo mutation in Vissers paper but evidence for association considered weak overall; note FREM1 homozygous mutations associated with BNAR/MOTA syndromes in which craniosynostosis is not a feature
Created: 14 Sep 2015, 1:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Manitoba oculotrichoanal syndrome; bifid nose; trigonocephaly for gene: FREM1
Source NHS GMS was added to FREM1.
This gene has been classified as Red List (Low Evidence).
FREM1 was added to Craniosynostosis syndromespanel. Sources: Expert list