| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Facial papules v0.31 | SUFU | Bryony Thompson Marked gene: SUFU as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.31 | SUFU | Bryony Thompson Gene: sufu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.31 | SUFU | Bryony Thompson Classified gene: SUFU as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.31 | SUFU | Bryony Thompson Gene: sufu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.30 | SUFU |
Bryony Thompson gene: SUFU was added gene: SUFU was added to Facial papules. Sources: Expert list Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SUFU were set to 20301330 Phenotypes for gene: SUFU were set to nevoid basal cell carcinoma syndrome MONDO:0007187 Review for gene: SUFU was set to GREEN gene: SUFU was marked as current diagnostic Added comment: BCCs can present on the face and coarse facial features and facial milia can also be present but are milder than PTCH1-related NBCCS. Sources: Expert list |
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