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| Facial papules v1.1 | ISCA-37431-Loss |
Sarah Milton Region: ISCA-37431-Loss was added Region: ISCA-37431-Loss was added to Facial papules. Sources: Expert Review Green,Expert list Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829 Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome |
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| Facial papules v0.25 | NF1 | Bryony Thompson Marked gene: NF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.25 | NF1 | Bryony Thompson Gene: nf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.25 | NF1 | Bryony Thompson Classified gene: NF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.25 | NF1 | Bryony Thompson Gene: nf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.24 | NF1 |
Bryony Thompson gene: NF1 was added gene: NF1 was added to Facial papules. Sources: Literature Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NF1 were set to 23984232; 32298062; 34164111 Phenotypes for gene: NF1 were set to neurofibromatosis type 1 MONDO:0018975 Review for gene: NF1 was set to GREEN gene: NF1 was marked as current diagnostic Added comment: Facial papules and facial plexiform neurofibromatosis have been reported as a presenting feature of the condition. Sources: Literature |
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