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  3. TLN1
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Spontaneous coronary artery dissection

Gene: TLN1

Amber List (moderate evidence)
TLN1 (talin 1)
EnsemblGeneIds (GRCh38): ENSG00000137076
EnsemblGeneIds (GRCh37): ENSG00000137076
OMIM: 186745, Gene2Phenotype
TLN1 is in 4 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

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
Created: 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

Created: 28 Jun 2024, 1:49 a.m.
Last Modified: 8 Aug 2024, 7:01 a.m.
Panel version: 0.44

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • idiopathic spontaneous coronary artery dissection MONDO:0007385
OMIM
186745
Clinvar variants
Variants in TLN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2024, Gel status: 2

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: TLN1 were set to 30888838; 37979122

28 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: tln1 has been classified as Amber List (Moderate Evidence).

28 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: tln1 has been classified as Amber List (Moderate Evidence).

28 Jun 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

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