Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Facial papules v0.18 | CDKN1B | Bryony Thompson Marked gene: CDKN1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Facial papules v0.18 | CDKN1B | Bryony Thompson Gene: cdkn1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Facial papules v0.18 | CDKN1B | Bryony Thompson Classified gene: CDKN1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Facial papules v0.18 | CDKN1B | Bryony Thompson Added comment: Comment on list classification: Included as MEN1 differential diagnosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Facial papules v0.18 | CDKN1B | Bryony Thompson Gene: cdkn1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Facial papules v0.17 | CDKN1B | Bryony Thompson Classified gene: CDKN1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Facial papules v0.17 | CDKN1B | Bryony Thompson Gene: cdkn1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Facial papules v0.16 | CDKN1B |
Bryony Thompson gene: CDKN1B was added gene: CDKN1B was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDKN1B were set to 20301710 Phenotypes for gene: CDKN1B were set to multiple endocrine neoplasia type 4 MONDO:0012552 Review for gene: CDKN1B was set to AMBER Added comment: Overlapping phenotype with MEN1 with possible association with facial angiofibromas, but I couldn't find any evidence in the literature that these are present in individuals with MEN4. Sources: Expert list |