Spontaneous coronary artery dissection

Gene: FLNA

I don't know

clear connective tissue disorder phenotype in a significant minority (if not majority) of FLNA pathogenic variant carriers, with a report of SCAD associated (PMID: 32897753). Amber at this point.

Created: 10 Sep 2024, 5:03 a.m. | Last Modified: 10 Sep 2024, 5:03 a.m.

Panel Version: 0.53

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spontaneous coronary artery dissection

Publications

• 34863227

I don't know

Thoracic aortic dilatation is a rare feature of this disorder, also supporting the notion that vascular involvement is a feature, hence Amber rating.

Created: 13 Aug 2024, 1:58 a.m. | Last Modified: 13 Aug 2024, 1:58 a.m.

Panel Version: 0.50

Phenotypes
periventricular heterotopia 1 MIM#300049

I don't know

borderline red/amber but amber so as to not miss a diagnosis

PMID: 32897753
1x individual with left anterior descending coronary artery

Sources: Literature

Created: 27 Jun 2024, 11:43 p.m. | Last Modified: 7 Aug 2024, 1:24 a.m.

Panel Version: 0.34

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
periventricular heterotopia 1 MIM#300049

Publications

• 32897753

Variants in this GENE are reported as part of current diagnostic practice