Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Ectodermal Dysplasia v0.26 | CTSC | Bryony Thompson Marked gene: CTSC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ectodermal Dysplasia v0.26 | CTSC | Bryony Thompson Gene: ctsc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ectodermal Dysplasia v0.26 | CTSC | Bryony Thompson Classified gene: CTSC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ectodermal Dysplasia v0.26 | CTSC | Bryony Thompson Gene: ctsc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ectodermal Dysplasia v0.25 | CTSC |
Bryony Thompson gene: CTSC was added gene: CTSC was added to Ectodermal Dysplasia. Sources: Other 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 Review for gene: CTSC was set to GREEN gene: CTSC was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM). Ectodermal dysplasia (involving skin and teeth) is a feature of the conditions caused by biallelic variants in this gene. Sources: Other |