Aortopathy_Connective Tissue Disorders
Gene: TLN1EnsemblGeneIds (GRCh38): ENSG00000137076
EnsemblGeneIds (GRCh37): ENSG00000137076
OMIM: 186745, Gene2Phenotype
TLN1 is in 4 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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: LiteratureCreated: 11 Mar 2022, 12:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
idiopathic spontaneous coronary artery dissection MONDO:0007385
Publications
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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tln1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tln1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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