| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v1.52 | COL2A1 | Bryony Thompson Marked gene: COL2A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.52 | COL2A1 | Bryony Thompson Gene: col2a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.52 | COL2A1 | Bryony Thompson Classified gene: COL2A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.52 | COL2A1 | Bryony Thompson Gene: col2a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.51 | COL2A1 |
Bryony Thompson gene: COL2A1 was added gene: COL2A1 was added to Aortopathy_Connective Tissue Disorders. Sources: Other Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL2A1 were set to 1677770; 20301479 Phenotypes for gene: COL2A1 were set to Stickler syndrome, type I MIM#108300 Review for gene: COL2A1 was set to GREEN gene: COL2A1 was marked as current diagnostic Added comment: Stickler syndrome is a multi-system connective tissue disorder. Monoallelic loss of function variants in COL2A1 are the most common cause of Stickler syndrome. Sources: Other |
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