Skeletal dysplasia
Gene: CTSC
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Haim-Munk syndrome 245010,
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: CTSC; Initial rating suggestion: Green if 245010 is considered SDCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM. At least four variants reportedCreated: 28 Jul 2016, 9:07 a.m.
Comment on phenotypes: Variants also reported in Papillon-Lefevre syndrome 245000 and Periodontitis 1, juvenile 170650Created: 28 Jul 2016, 8:55 a.m.
Tier 1Created: 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
Added phenotypes Haim-Munk syndrome 245010, for gene: CTSC
Source NHS GMS was added to CTSC. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Publications for CTSC were set to 15727652; 26205983; 24966751
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for CTSC were set to Haim-Munk syndrome 245010
Mode of inheritance for CTSC was changed to BIALLELIC, autosomal or pseudoautosomal
CTSC was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
CTSC was created by sleigh
CTSC was added to Unexplained skeletal dysplasiapanel. Sources: