| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Facial papules v0.44 | IDUA | Bryony Thompson Marked gene: IDUA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.44 | IDUA | Bryony Thompson Gene: idua has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.44 | IDUA | Bryony Thompson Classified gene: IDUA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.44 | IDUA | Bryony Thompson Gene: idua has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.43 | IDUA |
Bryony Thompson gene: IDUA was added gene: IDUA was added to Facial papules. Sources: Expert list Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDUA were set to 20301341 Phenotypes for gene: IDUA were set to Mucopolysaccharidosis type 1 MONDO:0001586 Review for gene: IDUA was set to GREEN gene: IDUA was marked as current diagnostic Added comment: Coarse facies is prevalent in severe mucopolysaccharidosis and can be present to a lesser degree in attenuated mucopolysaccharidosis. Sources: Expert list |
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| 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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