Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Facial papules v0.9 | TSC1 | Bryony Thompson Marked gene: TSC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Facial papules v0.9 | TSC1 | Bryony Thompson Gene: tsc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Facial papules v0.9 | TSC1 | Bryony Thompson Classified gene: TSC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Facial papules v0.9 | TSC1 | Bryony Thompson Gene: tsc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Facial papules v0.8 | TSC1 |
Bryony Thompson gene: TSC1 was added gene: TSC1 was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TSC1 were set to 20301399 Phenotypes for gene: TSC1 were set to tuberous sclerosis MONDO:0001734 Review for gene: TSC1 was set to GREEN gene: TSC1 was marked as current diagnostic Added comment: Facial angiofibromas are a characteristic feature of the tuberous sclerosis Sources: Expert list |