Familial Thoracic Aortic Aneurysm (genepanel) - UZA
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 |