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| Facial papules v0.18 | CDKN1B | Bryony Thompson Added comment: Comment on list classification: Included as MEN1 differential diagnosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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| Facial papules v0.13 | MEN1 | Bryony Thompson Marked gene: MEN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.13 | MEN1 | Bryony Thompson Gene: men1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.13 | MEN1 | Bryony Thompson Classified gene: MEN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.13 | MEN1 | Bryony Thompson Gene: men1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.12 | MEN1 |
Bryony Thompson gene: MEN1 was added gene: MEN1 was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MEN1 were set to 20301710 Phenotypes for gene: MEN1 were set to multiple endocrine neoplasia type 1 MONDO:0007540 Review for gene: MEN1 was set to GREEN gene: MEN1 was marked as current diagnostic Added comment: Facial angiofibromas are a non-endocrine tumour that can be present in multiple endocrine neoplasia type 1. Sources: Expert list |
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