Gene: STAMBPL1

Alternate names for this Gene: ALMalpha|AMSH-FP|AMSH-LP|bA399O19.2

Gene Summary:

Gene is located in Chromosome: 10

Location in Chromosome : 10q23.31

Description of this Gene: STAM binding protein like 1

Type of Gene: protein-coding

Gene: ACTA2

Alternate names for this Gene: ACTSA

Gene Summary: This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome.

Gene is located in Chromosome: 10

Location in Chromosome : 10q23.31

Description of this Gene: actin alpha 2, smooth muscle

Type of Gene: protein-coding

rs121434526 in STAMBPL1;ACTA2 gene and Aortic Aneurysm, Familial Thoracic 6 PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 19639654 2009 Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 24020716 2015 Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections.

PMID 21248741 2011 Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.

PMID 17994018 2007 Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

PMID 25173340 2014 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).

PMID 19409525 2009 Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

PMID 25644172 2015 Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

PMID 24882528 2014 Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

PMID 21212136 2011 Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2).

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 20734336 2010 De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.

PMID 22752479 2013 Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.

PMID 22946110 2012 Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm.

PMID 22831780 2012 A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.

PMID 25944730 2015 Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.

PMID 26034244 2015 Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy.

PMID 24998021 2014 Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation.

PMID 24621862 2014 Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome.

PMID 24293535 2013 Cerebral arteriopathy associated with Arg179His ACTA2 mutation.

PMID 27567161 2017 Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings.

PMID 27481187 2016 Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.

PMID 25759435 2015 Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.

rs387906592 in STAMBPL1;ACTA2 gene and Familial thoracic aortic aneurysm and aortic dissection PMID 19409525 2009 Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

PMID 22752479 2013 Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.

PMID 22302747 2012 R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.

PMID 20734336 2010 De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.

PMID 20970362 2011 Analysis of ACTA2 in European Moyamoya disease patients.

rs387906592 in STAMBPL1;ACTA2 gene and MOYAMOYA DISEASE 5 PMID 20970362 2011 Analysis of ACTA2 in European Moyamoya disease patients.

rs387906592 in STAMBPL1;ACTA2 gene and MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME PMID 20734336 2010 De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.

PMID 20970362 2011 Analysis of ACTA2 in European Moyamoya disease patients.

PMID 22752479 2013 Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.

PMID 22946110 2012 Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm.

PMID 22831780 2012 A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.

PMID 22302747 2012 R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.