Familial Thoracic Aortic Aneurysm (genepanel) - UZA

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Full name:
Familial Thoracic Aortic Aneurysm (genepanel) - UZA
Abbreviation:
FTAA / TAAD
Version number:
v12
Laboratory:
Created:
04 Jul 2019 - 14:34
Changed:
28 Nov 2023 - 06:46
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ABL1 100.00 0
ACTA2 100.00 0
ARIH1 100.00 0
ASPH 100.00 0
BGN 100.00 0
COL3A1 100.00 0
EFEMP2 100.00 0
ELN 100.00 0
EMILIN1 100.00 0
FBN1 100.00 1
FBN2 100.00 0
FKBP14 100.00 0
FLNA 100.00 0
FOXE3 100.00 0
HCN4 100.00 0
IPO8 100.00 0
JAG1 100.00 0
LMOD1 100.00 0
LOX 100.00 0
LTBP3 100.00 0
MAT2A 100.00 0
MFAP5 100.00 0
MYH11 100.00 0
MYLK 100.00 0
NOTCH1 100.00 0
NPR3 100.00 0
PLOD1 100.00 0
PMEPA1 100.00 0
PRKG1 100.00 0
ROBO4 100.00 0
SKI 100.00 0
SLC2A10 100.00 0
SMAD2 100.00 0
SMAD3 100.00 0
SMAD4 100.00 0
SMAD6 100.00 0
TBX20 100.00 0
TGFB2 100.00 0
TGFB3 100.00 0
TGFBR1 100.00 0
TGFBR2 100.00 1
THSD4 100.00 0