Spontaneous coronary artery dissection
Gene: TLN1
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: LiteratureCreated: 28 Jun 2024, 1:49 a.m. | Last Modified: 8 Aug 2024, 7:01 a.m.
Panel Version: 0.50
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
idiopathic spontaneous coronary artery dissection MONDO:0007385
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: TLN1 were set to 30888838; 37979122
Gene: tln1 has been classified as Amber List (Moderate Evidence).
Gene: tln1 has been classified as Amber List (Moderate Evidence).
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