| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Palmoplantar keratoderma and erythrokeratodermas v1.17 | CTSC | Catherine Snow Classified gene: CTSC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas v1.17 | CTSC | Catherine Snow Added comment: Comment on list classification: Gene added to panel based on feedback from Genomics England clinician. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas v1.17 | CTSC | Catherine Snow Gene: ctsc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas v1.16 | CTSC |
Zerin Hyder gene: CTSC was added gene: CTSC was added to Palmoplantar keratoderma and erythrokeratodermas. Sources: Expert list Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSC were set to 10581027; 15585850; 11180012; 10662807 Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome; Haim-Munk syndrome; Periodontitis 1, juvenile Penetrance for gene: CTSC were set to unknown Review for gene: CTSC was set to GREEN gene: CTSC was marked as current diagnostic Added comment: This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. CTSC green on GMS panel, upgrade on 100K panel. Sources: Expert list |
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