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| Facial papules v2.0 | HR | Gene migrated from ENSG00000168453 to ENSG00000168453 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v1.2 | ARHGAP36 downstream regulatory region |
Sarah Milton Region: ARHGAP36 downstream regulatory region was added Region: ARHGAP36 downstream regulatory region was added to Facial papules. Sources: Literature regulatory region tags were added to Region: ARHGAP36 downstream regulatory region. Mode of inheritance for Region: ARHGAP36 downstream regulatory region was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for Region: ARHGAP36 downstream regulatory region were set to PMID: 40015599; 35986704; 38713094 Phenotypes for Region: ARHGAP36 downstream regulatory region were set to Bazex-Dupre-Christol syndrome, MIM#301845 |
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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 v0.27 | HR | Bryony Thompson Marked gene: HR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.27 | HR | Bryony Thompson Gene: hr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.27 | HR | Bryony Thompson Classified gene: HR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.27 | HR | Bryony Thompson Gene: hr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.26 | HR |
Bryony Thompson gene: HR was added gene: HR was added to Facial papules. Sources: Literature Mode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HR were set to 12271294; 9856480; 10205263; 17869066 Phenotypes for gene: HR were set to atrichia with papular lesions MONDO:0008847 Review for gene: HR was set to GREEN gene: HR was marked as current diagnostic Added comment: Facial papules can be a feature of the condition. Sources: Literature |
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