Aortic Aneurysm, Familial Thoracic 8; Aat8

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Aortic Aneurysm, Familial Thoracic 8; Aat8

PRKG1

View recommended genes panels

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 Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, MFAP5, FBN1, FBN2, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11, MYLK, PLOD3, PRKG1 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 Panel complete gene list SKI, TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, SMAD3, SMAD4, MYH11, MYLK, PLOD1, PLOD3, PRKG1 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 Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2, SLC39A13, DSE, ADAMTS2, COL11A1, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, ZNF469, CHST14, GORAB, FLCN, MFAP5, EFEMP2, ELN, FBLN5, FBN1, FBN2, FLNA, FOXE3, ABCC6, LOX, LTBP4, SMAD2, SMAD3, SMAD4, SMAD6, MYH11, MYLK, NOTCH1, NOTCH2, ATP7A, PKD1, PKD2, PLOD1, B4GALT7, PRDM5, PRKG1, PTDSS1, PYCR1, ALDH18A1 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 Panel complete gene list SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, SMAD3, SMAD4, MYH11, MYLK, NOTCH1, PLOD1, PRKG1 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 Panel complete gene list RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SKI, SNTA1, TAZ, TBX1, TBX20, TBX5, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3, TNNT2, MED12, TPM1, TRDN, TTN, TTR, VCL, ACTA2, MYOZ2, SLC2A10, CACNA1C, CACNA2D1, CACNB2, JPH2, ACTC1, CALM1, CASQ2, CAV3, CBS, LDB3, ANKRD1, ACTN2, HCN4, TRPM4, TXNRD2, SCN3B, COL3A1, COL5A1, COL5A2, MYPN, CRYAB, CSRP3, NKX2-5, RBM20, DES, TMEM43, GPD1L, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, EMD, EYA4, FBN1, FBN2, FKTN, FLNA, AKAP9, FXN, GATA4, GLA, ANK2, ABCC9, JAG1, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMA4, LAMP2, LMNA, SMAD3, SMAD4, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, NOTCH1, PKP2, PLN, PLOD1, PRKAG2, BAG3, PRKG1, PTPN11, RAF1 Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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