| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.114 | CTSC | Bryony Thompson Marked gene: CTSC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.114 | CTSC | Bryony Thompson Gene: ctsc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.114 | CTSC | Bryony Thompson Classified gene: CTSC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.114 | CTSC | Bryony Thompson Gene: ctsc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.113 | CTSC |
Bryony Thompson gene: CTSC was added gene: CTSC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSC were set to 10581027 Phenotypes for gene: CTSC were set to Haim-Munk syndrome MIM#245010; Papillon-Lefevre syndrome MIM#245000; other lysosomal disorder Review for gene: CTSC was set to GREEN gene: CTSC was marked as current diagnostic Added comment: Well-established gene-disease associations (see OMIM entry). HMS and PLS are classified as metabolic disorders by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders). Sources: NHS GMS |
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