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| Spontaneous coronary artery dissection v0.50 | TLN1 |
Ain Roesley changed review comment from: PMID: 30888838 10x families with a single affected, all missense 5x unknown inheritance 5x inherited from n unaffected parent 1x 2 generational fam with an unaffected obligate carrier, missense variant variants reported and their counts in gnomad v4: Ala2013Thr 1091 hets 1 hom Arg297His 97 hets Thr585Met 36 hets Pro942Leu 62 hets Ala1219Val 44 hets Arg1241Trp 13 hets Ser1333Thr absent Val1964Ile 185 hets Thr2098Met 358 hets Val2440Glu absent PMID: 36103205 2x individual however only 1 has a personal history of R-SCAD Ala1574Val Sources: Literature; to: PMID: 30888838 10x families with a single affected, all missense 5x unknown inheritance 5x inherited from an unaffected parent 1x 2 generational fam with an unaffected obligate carrier, missense variant variants reported and their counts in gnomad v4: Ala2013Thr 1091 hets 1 hom Arg297His 97 hets Thr585Met 36 hets Pro942Leu 62 hets Ala1219Val 44 hets Arg1241Trp 13 hets Ser1333Thr absent Val1964Ile 185 hets Thr2098Met 358 hets Val2440Glu absent PMID: 36103205 2x individual however only 1 has a personal history of R-SCAD Ala1574Val Sources: Literature |
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| Spontaneous coronary artery dissection v0.45 | TLN1 | Ain Roesley Publications for gene: TLN1 were set to 30888838; 37979122 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.44 | TLN1 | Ain Roesley edited their review of gene: TLN1: Changed publications: 30888838, 36103205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.44 | TLN1 |
Ain Roesley changed review comment from: PMID: 37979122; listed as "likely monogenic disease effect" but AMBER rating 10 unique rare heterozygous missense variants in 11 individuals were identified in a 2 generation SCAD family and 56 unrelated individuals with sporadic SCAD. All variants had a MAF of less than 0.06% and occurred within highly conserved β-integrin, F-actin, or vinculin binding domains. Incomplete penetrance was evident in the familial case and five individuals with unaffected heterozygous parents. No functional assays were conducted. Sources: Literature; to: PMID: 30888838 10x families with a single affected, all missense 5x unknown inheritance 5x inherited from n unaffected parent 1x 2 generational fam with an unaffected obligate carrier, missense variant variants reported and their counts in gnomad v4: Ala2013Thr 1091 hets 1 hom Arg297His 97 hets Thr585Met 36 hets Pro942Leu 62 hets Ala1219Val 44 hets Arg1241Trp 13 hets Ser1333Thr absent Val1964Ile 185 hets Thr2098Met 358 hets Val2440Glu absent PMID: 36103205 2x individual however only 1 has a personal history of R-SCAD Ala1574Val Sources: Literature |
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| Spontaneous coronary artery dissection v0.32 | TLN1 |
Ain Roesley changed review comment from: PMID: 37979122; listed as "likely monogenic disease effect" but AMBER rating 10 unique rare heterozygous missense variants in 11 individuals were identified in a 2 generation SCAD family and 56 unrelated individuals with sporadic SCAD. All variants had a MAF of less than 0.06% and occurred within highly conserved β-integrin, F-actin, or vinculin binding domains. Incomplete penetrance was evident in the familial case and five individuals with sporadic SCAD from whom parental DNA was available. No functional assays were conducted. Sources: Literature; to: PMID: 37979122; listed as "likely monogenic disease effect" but AMBER rating 10 unique rare heterozygous missense variants in 11 individuals were identified in a 2 generation SCAD family and 56 unrelated individuals with sporadic SCAD. All variants had a MAF of less than 0.06% and occurred within highly conserved β-integrin, F-actin, or vinculin binding domains. Incomplete penetrance was evident in the familial case and five individuals with unaffected heterozygous parents. No functional assays were conducted. Sources: Literature |
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| Spontaneous coronary artery dissection v0.29 | TLN1 | Ain Roesley Marked gene: TLN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.29 | TLN1 | Ain Roesley Gene: tln1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.29 | TLN1 | Ain Roesley Classified gene: TLN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.29 | TLN1 | Ain Roesley Gene: tln1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.28 | TLN1 |
Ain Roesley gene: TLN1 was added gene: TLN1 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: TLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TLN1 were set to 30888838; 37979122 Phenotypes for gene: TLN1 were set to idiopathic spontaneous coronary artery dissection MONDO:0007385 Review for gene: TLN1 was set to AMBER gene: TLN1 was marked as current diagnostic Added comment: PMID: 37979122; listed as "likely monogenic disease effect" but AMBER rating 10 unique rare heterozygous missense variants in 11 individuals were identified in a 2 generation SCAD family and 56 unrelated individuals with sporadic SCAD. All variants had a MAF of less than 0.06% and occurred within highly conserved β-integrin, F-actin, or vinculin binding domains. Incomplete penetrance was evident in the familial case and five individuals with sporadic SCAD from whom parental DNA was available. No functional assays were conducted. Sources: Literature |
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