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Spontaneous coronary artery dissection (Version 0.56)

Level 2: Cardiovascular disorders

Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
Spontaneous coronary artery (SCA) dissection is a rare cause of myocardial infarction, particularly in younger individuals. While the aetiology is likely to be polygenic in the majority of individuals, SCA dissection may also be indicative of an underlying systemic arteriopathy. This panel contains genes that have been reported in association with this clinical presentation.

Consider also using the Aortopathy_Connective Tissue Disorders panel in conjunction.

This panel was developed in collaboration with Cardiovascular Genomics at the Victorian Heart Hospital and the Clinical Genetics & Genomics Service at Alfred Health.
Panel Activity

4 reviewers

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Kunal Verma (Alfred Health)

  • Stephanie Hesselson (Victor Chang Research Institute)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

19 Entities

19 reviewed, 9 green

List Entity Reviews Mode of inheritance Details
19 Entitiess
Green List (high evidence)
COL3A1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, vascular type MIM#130050
Tags
Green List (high evidence)
COL4A1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773
Tags
Green List (high evidence)
COL5A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 1 MIM#130000
  • Fibromuscular dysplasia, multifocal MIM#619329
Tags
Green List (high evidence)
FBN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Marfan syndrome MIM#154700
  • familial thoracic aortic aneurysm and aortic dissection MONDO:0019625, FBN1-related
Tags
Green List (high evidence)
SMAD2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Loeys-Dietz syndrome 6, MIM# 619656
Tags
Green List (high evidence)
SMAD3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Loeys-Dietz syndrome 3, MIM# 613795
Tags
Green List (high evidence)
TGFB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Loeys-Dietz syndrome 4 MIM#614816
Tags
Green List (high evidence)
TGFB3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Loeys-Dietz syndrome 5 MIM#615582
Tags
Green List (high evidence)
TGFBR2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Loeys-Dietz syndrome 2 MIM#610168
Tags
Amber List (moderate evidence)
FLNA
3 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spontaneous coronary artery dissection
Tags
Amber List (moderate evidence)
LOX
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Aortic aneurysm, familial thoracic 10 MIM#617168
Tags
Amber List (moderate evidence)
MYLK
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Aortic aneurysm, familial thoracic 7 MIM#613780
Tags
Amber List (moderate evidence)
TGFBR1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Loeys-Dietz syndrome 1 MIM#609192
Tags
Amber List (moderate evidence)
TLN1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • idiopathic spontaneous coronary artery dissection MONDO:0007385
Tags
Amber List (moderate evidence)
YY1AP1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Grange syndrome, MIM# 602531
Tags
Red List (low evidence)
LMX1B
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nail-patella syndrome MIM#161200
Tags
Red List (low evidence)
PKD1
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Polycystic kidney disease 1 MIM#173900
Tags
Red List (low evidence)
PTGIR
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Literature
Tags
Red List (low evidence)
TSR1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Literature
Tags

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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