Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: CTSK
Deformity of the skull - wide sutures. Thomas (J Craniofac Surg 19) reports a CSS case and refers to 11 other cases with CSS in the literature ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pycnodysostosis, 265800
Publications
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: CTSK; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Craniosynostosis is recognised low frequency complication; only diagnose when other features of pycnodysostosis presentCreated: 14 Sep 2015, 3:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
pycnodysostosis
Publications
Added phenotypes Pycnodysostosis 265800 for gene: CTSK
Source NHS GMS was added to CTSK. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for CTSK were set to 265800
Publications for CTSK were set to 21968522; 23175007
Mode of inheritance for CTSK was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CTSK was added to Craniosynostosis syndromespanel. Sources: Expert list