| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Aortopathy_Connective Tissue Disorders v1.46 | ADAMTS17 | Bryony Thompson Marked gene: ADAMTS17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.46 | ADAMTS17 | Bryony Thompson Gene: adamts17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.46 | ADAMTS17 | Bryony Thompson Classified gene: ADAMTS17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.46 | ADAMTS17 | Bryony Thompson Gene: adamts17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.45 | ADAMTS17 |
Bryony Thompson gene: ADAMTS17 was added gene: ADAMTS17 was added to Aortopathy_Connective Tissue Disorders. Sources: Other Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS17 were set to 19836009; 20301293 Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive MIM#613195 Review for gene: ADAMTS17 was set to GREEN gene: ADAMTS17 was marked as current diagnostic Added comment: Weill-Marchesani syndrome is a multi-system connective tissue disorder. Biallelic variants in ADAMTS17 have been reported in at least 6 families. Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||