Likely inborn error of metabolism - targeted testing not possible
Gene: CTSCComment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 13 variants identified in unrelated cases of Papillon-Lefevre syndrome 245000.Created: 12 Aug 2019, 2:33 p.m. | Last Modified: 12 Aug 2019, 2:33 p.m.
Panel Version: 1.98
Comment on phenotypes: Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders);Unexplained skeletal dysplasiaCreated: 12 Aug 2019, 2:30 p.m. | Last Modified: 12 Aug 2019, 2:30 p.m.
Panel Version: 1.97
Gene: ctsc has been classified as Green List (High Evidence).
Phenotypes for gene: CTSC were changed from Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders); Unexplained skeletal dysplasia to Haim-Munk syndrome 245010; Papillon-Lefevre syndrome 245000; Periodontitis 1, juvenile 170650
Source NHS GMS was added to CTSC. Source London North GLH was added to CTSC.
Sarah Leigh: Associated with relevant pheno
gene: CTSC was added gene: CTSC was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSC were set to 27604308 Phenotypes for gene: CTSC were set to Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders); Unexplained skeletal dysplasia