| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Facial papules v0.46 | IDS | Bryony Thompson Marked gene: IDS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.46 | IDS | Bryony Thompson Gene: ids has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.46 | IDS | Bryony Thompson Classified gene: IDS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.46 | IDS | Bryony Thompson Gene: ids has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.45 | IDS |
Bryony Thompson gene: IDS was added gene: IDS was added to Facial papules. Sources: Expert list Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IDS were set to 20301451 Phenotypes for gene: IDS were set to Mucopolysaccharidosis type 2 MONDO:0010674 Review for gene: IDS was set to GREEN gene: IDS was marked as current diagnostic Added comment: Coarse facies is a feature of mucopolysaccharidosis type 2 Sources: Expert list |
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