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| Likely inborn error of metabolism - targeted testing not possible v1.98 | CTSC | Sarah Leigh Classified gene: CTSC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.98 | CTSC |
Sarah Leigh Added comment: Comment 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. |
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| Likely inborn error of metabolism - targeted testing not possible v1.98 | CTSC | Sarah Leigh Gene: ctsc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.97 | CTSC | Sarah Leigh Added comment: Comment on phenotypes: Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders);Unexplained skeletal dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.97 | CTSC | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | CTSC |
Ivone Leong Source NHS GMS was added to CTSC. Source London North GLH was added to CTSC. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | CTSC |
Ellen McDonagh 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 |
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