Skeletal dysplasia

Gene: CTSC

Green List (high evidence)

245010 not listed in SD nosology paper, but is associated with skeletal signs including arachnodactyly & acroosteolysis - at least families reported. Variants in this gene also associated with Papillon-Lefevre syndrome 245000, periodontitis 1, juvenile 170650.; Review on behalf of Tracy Lester

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haim-Munk syndrome 245010,

Publications

• 15727652
• 26205983
• 24966751

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: CTSC; Initial rating suggestion: Green if 245010 is considered SD

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

Comment when marking as ready: Associated with phenotype in OMIM. At least four variants reported

Created: 28 Jul 2016, 9:07 a.m.

Comment on phenotypes: Variants also reported in Papillon-Lefevre syndrome 245000 and Periodontitis 1, juvenile 170650

Created: 28 Jul 2016, 8:55 a.m.

Green List (high evidence)

Tier 1

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haim-Munk syndrome 245010; Papillon-Lefevre syndrome 245000; Periodontitis 1, juvenile 170650

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