| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v0.126 | DSE | Bryony Thompson Marked gene: DSE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.126 | DSE | Bryony Thompson Gene: dse has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.126 | DSE | Bryony Thompson Classified gene: DSE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.126 | DSE | Bryony Thompson Gene: dse has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.125 | DSE |
Bryony Thompson gene: DSE was added gene: DSE was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSE were set to 28306229; 23704329; 25703627; 32130795 Phenotypes for gene: DSE were set to Ehlers-Danlos syndrome, musculocontractural type 2 MIM#615539 Review for gene: DSE was set to GREEN Added comment: One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229). 8 cases from 6 unrelated families have been reported with homozygous variants. Sources: Expert list |
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