| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hyper-IgE syndrome v0.21 | DSG1 | Bryony Thompson Marked gene: DSG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyper-IgE syndrome v0.21 | DSG1 | Bryony Thompson Gene: dsg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyper-IgE syndrome v0.21 | DSG1 | Bryony Thompson Classified gene: DSG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyper-IgE syndrome v0.21 | DSG1 | Bryony Thompson Gene: dsg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyper-IgE syndrome v0.20 | DSG1 | Bryony Thompson Classified gene: DSG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyper-IgE syndrome v0.20 | DSG1 | Bryony Thompson Gene: dsg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyper-IgE syndrome v0.19 | DSG1 |
Bryony Thompson gene: DSG1 was added gene: DSG1 was added to Hyper-IgE syndrome. Sources: Other Mode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSG1 were set to 23974871; 32126589; 29604126 Phenotypes for gene: DSG1 were set to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE MIM#615508 Review for gene: DSG1 was set to GREEN Added comment: >3 unrelated families reported with elevated IgE levels, and apparently only one case without elevated IgE. It's speculated that DSG1 deficiency generates impaired desmosome formation, abnormal differentiation, and acantholysis, resulting in compromised epidermal barrier function and exposing the immune system to abnormal stimulation. Sources: Other |
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