| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v0.156 | MAT2A | Bryony Thompson Marked gene: MAT2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.156 | MAT2A | Bryony Thompson Gene: mat2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.156 | MAT2A | Bryony Thompson Classified gene: MAT2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.156 | MAT2A | Bryony Thompson Gene: mat2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.155 | MAT2A |
Bryony Thompson gene: MAT2A was added gene: MAT2A was added to Aortopathy_Connective Tissue Disorders. Sources: ClinGen Mode of inheritance for gene: MAT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAT2A were set to 30071989; 25557781 Phenotypes for gene: MAT2A were set to Thoracic aortic aneurysm Review for gene: MAT2A was set to AMBER Added comment: PMID: 25557781 - A rare missense (p.Glu344Ala) identified in a family that segregated with thoracic aortic disease and a second missense was identified in an unrelated thoracic aortic disease proband. Morpholino KO in zebrafish lead to pericardial edema and rescue by human MAT2A PMID: 30071989 - Classified as Limited by the HTAAD GCEP, downgraded from Moderate due to the absence of additional variants identified in a large (>400) unpublished aortopathy cohort. Categorised as uncertain, because it is a recently reported gene-disease association. Sources: ClinGen |
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