Aortic Aneurysm, Familial Thoracic 8; Aat8

Clinical Features

Phenotypes and symptoms related to Aortic Aneurysm, Familial Thoracic 8; Aat8

  • Dilatation
  • Aortic dissection
  • Thoracic aortic aneurysm
  • Abdominal aortic aneurysm
  • Cystic medial necrosis
  • Coronary artery aneurysm
  • Coronary artery dissection

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Aortic Aneurysm, Familial Thoracic 8; Aat8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Familial Aortic Aneurysms.

By Center for Human Genetics, Inc (United States).

TGFB2, TGFBR1, TGFBR2, ACTA2, SMAD3, MYH11, MYLK, PRKG1
Specificity
13 %
Genes
100 %
Connective Tissue Disorders 22-gene panel.

By Center for Human Genetics, Inc (United States).

TGFB2, TGFBR1, TGFBR2, TGFBR3, ACTA2, NTM, COL11A1, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, SMAD3, MYH11, MYLK, NOTCH1, PRKG1
Specificity
5 %
Genes
100 %
Familial Aneurysm Panel.

By Collagen Diagnostic Laboratory University of Washington (United States).

BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, MFAP5, FBN1, FBN2, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
PRKG1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

PRKG1
Specificity
100 %
Genes
100 %
Aortopathy Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SKI, TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, SMAD3, SMAD4, MYH11, MYLK, PLOD1, PLOD3 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
COL3A1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics (United States).

SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, SMAD3, SMAD4, MYH11, MYLK, NOTCH1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
CustomNext: Cardio.

By Ambry Genetics (United States).

RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SKI, SNTA1, TAZ, TBX1, TBX20, TBX5, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3, TNNT2 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %

You can get up to 36 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

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