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Spontaneous coronary artery dissection v0.40 | TGFB2 | Ain Roesley Publications for gene: TGFB2 were set to 30071989; 22772371 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Spontaneous coronary artery dissection v0.39 | TGFB2 | Ain Roesley edited their review of gene: TGFB2: Changed publications: 33125268, 36103205; Changed phenotypes: Loeys-Dietz syndrome 4 MIM#614816 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Spontaneous coronary artery dissection v0.39 | TGFB2 |
Ain Roesley changed review comment from: PMID: 33125268: 2x missense in SCAD individuals PMID: 36103205 3x individuals with missense, however no personal history of SCAD, only fam history borderline amber/green Sources: Literature; to: PMID: 33125268: 2x missense in SCAD individuals PMID: 36103205 1x individual with missense and peripartum SCAD Sources: Literature |
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Spontaneous coronary artery dissection v0.39 | TGFB2 |
Ain Roesley changed review comment from: "Definitive" by ClinGen Aortopathy Working Group. PMID: 22772371: 4 families Sources: Literature; to: PMID: 33125268: 2x missense in SCAD individuals PMID: 36103205 3x individuals with missense, however no personal history of SCAD, only fam history borderline amber/green Sources: Literature |
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Spontaneous coronary artery dissection v0.6 | TGFB2 | Ain Roesley Marked gene: TGFB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Spontaneous coronary artery dissection v0.6 | TGFB2 | Ain Roesley Gene: tgfb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Spontaneous coronary artery dissection v0.6 | TGFB2 | Ain Roesley Classified gene: TGFB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Spontaneous coronary artery dissection v0.6 | TGFB2 | Ain Roesley Gene: tgfb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Spontaneous coronary artery dissection v0.5 | TGFB2 |
Ain Roesley gene: TGFB2 was added gene: TGFB2 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFB2 were set to 30071989; 22772371 Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4 MIM#614816 Penetrance for gene: TGFB2 were set to Complete Review for gene: TGFB2 was set to GREEN gene: TGFB2 was marked as current diagnostic Added comment: "Definitive" by ClinGen Aortopathy Working Group. PMID: 22772371: 4 families Sources: Literature |