Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: CTSKEnsemblGeneIds (GRCh38): ENSG00000143387
EnsemblGeneIds (GRCh37): ENSG00000143387
OMIM: 601105, Gene2Phenotype
CTSK is in 11 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Andrew Wilkie (University of Oxford)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Pycnodysostosis 265800
- 265800
- OMIM
- 601105
- Clinvar variants
- Variants in CTSK
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Osteopetrosis
- DDG2P
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Pycnodysostosis 265800 for gene: CTSK
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to CTSK. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for CTSK were set to 265800
Set publications
Richard Scott (Genomics England Curator)Publications for CTSK were set to 21968522; 23175007
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for CTSK was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)CTSK was added to Craniosynostosis syndromespanel. Sources: Expert list