Skeletal dysplasia
Gene: CTSK
Osteopetrosis and related disorders SD gp. Several cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 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; Initial rating suggestion: GreenCreated: 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.
Tier 1Created: 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
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)
Publications for CTSK were set to 28328823
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CTSK were set to Pycnodysostosis 265800
Mode of inheritance for CTSK was changed to BIALLELIC, autosomal or pseudoautosomal
CTSK was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
CTSK was created by sleigh
CTSK was added to Unexplained skeletal dysplasiapanel. Sources: