Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: FAM20C
Osteosclerotic bone dysplasia with increased skull ossification. 2 unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly - 1 of the 2 cases in Simpson (2009) definitely had CSS as it was an Oxford case. The other has cranial remodelling so also likely CSS. AW aware of several unpublished cases with CSS. Amber or even green - its an important diagnosis to make. ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine syndrome
Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. Andrew Wilkie of Wessex and West Midlands GLH confirmed several unpublished cases.Created: 21 May 2019, 12:20 p.m.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: FAM20C; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Single case of craniosynostosis in non-lethal presentationCreated: 14 Sep 2015, 1:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine syndrome
Publications
Phenotypes for gene: FAM20C were changed from Raine syndrome to Raine syndrome 259775
Mode of inheritance for gene: FAM20C was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: fam20c has been classified as Green List (High Evidence).
Phenotypes for gene: FAM20C were changed from to Raine syndrome
Publications for gene: FAM20C were set to
Source NHS GMS was added to FAM20C.
This gene has been classified as Red List (Low Evidence).
FAM20C was added to Craniosynostosis syndromespanel. Sources: Expert list