Craniosynostosis

Gene: CTSK

Green List (high evidence)

CTSK (cathepsin K)
EnsemblGeneIds (GRCh38): ENSG00000143387
EnsemblGeneIds (GRCh37): ENSG00000143387
OMIM: 601105, Gene2Phenotype
CTSK is in 10 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pycnodysostosis, 265800

Publications

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Craniosynostosis is recognised low frequency complication; only diagnose when other features of pycnodysostosis present
Created: 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

History Filter Activity

11 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Pycnodysostosis 265800 for gene: CTSK

5 Mar 2019, Gel status: 3

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)

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for CTSK were set to 265800

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for CTSK were set to 21968522; 23175007

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for CTSK was changed to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

CTSK was added to Craniosynostosis syndromespanel. Sources: Expert list