| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Facial papules v0.15 | RET | Bryony Thompson Marked gene: RET as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.15 | RET | Bryony Thompson Gene: ret has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.15 | RET | Bryony Thompson Classified gene: RET as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.15 | RET | Bryony Thompson Gene: ret has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.14 | RET |
Bryony Thompson gene: RET was added gene: RET was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RET were set to 20301434 Phenotypes for gene: RET were set to multiple endocrine neoplasia type 2B MONDO:0008082 Mode of pathogenicity for gene: RET was set to Other Review for gene: RET was set to GREEN gene: RET was marked as current diagnostic Added comment: Distinctive facies including lip mucosal neuromas resulting in thick vermilion of the upper and lower lip, and mucosal neuromas of the lips and tongue are characteristic of MEN2B. Gain of function variants mainly involving codon 918 (~95%) cause the condition. Sources: Expert list |
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