| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Facial papules v0.6 | ECM1 | Bryony Thompson Marked gene: ECM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.6 | ECM1 | Bryony Thompson Gene: ecm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.6 | ECM1 | Bryony Thompson Classified gene: ECM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.6 | ECM1 | Bryony Thompson Gene: ecm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.5 | ECM1 |
Bryony Thompson gene: ECM1 was added gene: ECM1 was added to Facial papules. Sources: Expert list Mode of inheritance for gene: ECM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECM1 were set to 26803878 Phenotypes for gene: ECM1 were set to lipoid proteinosis MONDO:0009530 Review for gene: ECM1 was set to GREEN gene: ECM1 was marked as current diagnostic Added comment: One of the predominant features of lipoid proteinosis is multiple beaded papules along the eyelid margins and inner canthus known as moniliform blepharosis. Sources: Expert list |
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