Skeletal dysplasia

Gene: CTSK

Green List (high evidence)

Osteopetrosis and related disorders SD gp. Several cases reported.; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pycnodysostosis 265800

Publications

• 28328823

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; Initial rating suggestion: Green

Created: 6 Mar 2019, 11:36 a.m.

Comment on publications: new publication PMID: 28328823 - candidate gene sequencing in a Korean adult patient with pycnodysostosis and atypical femur fractur, identified two heterozygos variants within this gene - a missense and a frameshift.

Created: 14 Aug 2017, 3:42 p.m.

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.

Created: 11 Jul 2016, 1:08 p.m.

Green List (high evidence)

Tier 1

Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pycnodysostosis 265800

Variants in this GENE are reported as part of current diagnostic practice