| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Spontaneous coronary artery dissection v0.51 | LOX | Zornitza Stark reviewed gene: LOX: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 10 MIM#617168; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.36 | LOX | Ain Roesley Publications for gene: LOX were set to 30071989; 26838787; 30675029. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.35 | LOX | Ain Roesley Classified gene: LOX as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.35 | LOX | Ain Roesley Gene: lox has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.34 | LOX | Ain Roesley edited their review of gene: LOX: Changed rating: AMBER; Changed publications: 32897753, 36103205; Changed phenotypes: Aortic aneurysm, familial thoracic 10 MIM#617168 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.34 | LOX |
Ain Roesley changed review comment from: Reviewed as having 'strong' gene-disease association by the HTAAD working group, based on ClinGen framework (PMID: 30071989). Missense and nonsense variants described in six unrelated families with HTAAD and functional studies of three missense variants demonstrated a reduction in LOX activity (Guo et.al. (2016); PMID: 26838787). Two further individuals with negative family history: one individual has pathogenic nonsense variant and second individual has VUS missense variant (Renner et al. (2019); PMID: 30675029). Sources: Literature; to: PMID: 32897753 1x with circumflex coronary artery, possibly the same individual reported in PMID: 33125268 Met298Arg is absent in gnomad PMID: 36103205 1x however, the missense was curated as benign (97 hets in gnomad v4) Red/Amber rating - amber so as to not miss a diagnosis Sources: Literature |
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| Spontaneous coronary artery dissection v0.22 | LOX | Ain Roesley Marked gene: LOX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.22 | LOX | Ain Roesley Gene: lox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.22 | LOX | Ain Roesley Classified gene: LOX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.22 | LOX | Ain Roesley Gene: lox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.21 | LOX |
Ain Roesley gene: LOX was added gene: LOX was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: LOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LOX were set to 30071989; 26838787; 30675029. Phenotypes for gene: LOX were set to Aortic aneurysm, familial thoracic 10 MIM#617168 Review for gene: LOX was set to GREEN gene: LOX was marked as current diagnostic Added comment: Reviewed as having 'strong' gene-disease association by the HTAAD working group, based on ClinGen framework (PMID: 30071989). Missense and nonsense variants described in six unrelated families with HTAAD and functional studies of three missense variants demonstrated a reduction in LOX activity (Guo et.al. (2016); PMID: 26838787). Two further individuals with negative family history: one individual has pathogenic nonsense variant and second individual has VUS missense variant (Renner et al. (2019); PMID: 30675029). Sources: Literature |
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