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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