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| Aortopathy_Connective Tissue Disorders v1.96 | TLN1 | Elena Savva Publications for gene: TLN1 were set to 30888838; 39163585; 33092471 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.96 | TLN1 | Elena Savva Publications for gene: TLN1 were set to 30888838 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.95 | TLN1 |
Elena Savva changed review comment from: Azizi (2024): - describes missense variants and functionally analyzes only a SINGLE missense finding a measurable defect in features such as cell behaviour and movement. - Missense that were analysed were the same variants described in the previous submission (Turley 2019). Functional studies showed some effects in wound healing assay, but not cell monolayer integrity - weak functional evidence; to: Azizi (2024): - describes missense variants and functionally analyzes only a SINGLE missense finding a measurable defect in features such as cell behaviour and movement. - Missense that were analysed were the same variants described in the previous submission (Turley 2019). Functional studies showed some effects in wound healing assay, but not cell monolayer integrity - weak functional evidence Li (2021): Additional SNPs observed in a cohort with thoracic aortic aneurysm, no follow analysis of the variants (MAF, in silicos, functional etc.) |
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| Aortopathy_Connective Tissue Disorders v1.95 | TLN1 | Elena Savva reviewed gene: TLN1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 39163585, 30888838; Phenotypes: Idiopathic spontaneous coronary artery dissection MONDO:0007385; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.62 | TLN1 | Bryony Thompson Marked gene: TLN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.62 | TLN1 | Bryony Thompson Gene: tln1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.62 | TLN1 | Bryony Thompson Classified gene: TLN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.62 | TLN1 | Bryony Thompson Gene: tln1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.61 | TLN1 |
Bryony Thompson gene: TLN1 was added gene: TLN1 was added to Aortopathy_Connective Tissue Disorders. 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 Phenotypes for gene: TLN1 were set to idiopathic spontaneous coronary artery dissection MONDO:0007385 Review for gene: TLN1 was set to AMBER Added comment: 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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