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| 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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| Facial papules v0.29 | PTCH1 | Bryony Thompson Marked gene: PTCH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.29 | PTCH1 | Bryony Thompson Gene: ptch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.29 | PTCH1 | Bryony Thompson Classified gene: PTCH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.29 | PTCH1 | Bryony Thompson Gene: ptch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.28 | PTCH1 |
Bryony Thompson gene: PTCH1 was added gene: PTCH1 was added to Facial papules. Sources: Expert list Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTCH1 were set to 20301330 Phenotypes for gene: PTCH1 were set to nevoid basal cell carcinoma syndrome MONDO:0007187 Review for gene: PTCH1 was set to GREEN gene: PTCH1 was marked as current diagnostic Added comment: BCCs can present on the face and coarse facial features and facial milia are also present in ~60% of cases with a PTCH1 variant. Sources: Expert list |
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