Ehlers-Danlos syndrome -UGent
Full name: |
Ehlers-Danlos syndrome -UGent
|
Abbreviation: |
EDS
|
Laboratory: | |
Created: |
11 Dec 2019 - 13:31
|
Changed: |
14 Dec 2022 - 16:27
|
Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ADAMTS2 | 100.00 | 1 | |
AEBP1 | 100.00 | 1 | |
B3GALT6 | 100.00 | 1 | |
B3GAT3 | 100.00 | 1 | |
B4GALT7 | 100.00 | 1 | |
C1R | 100.00 | 1 | |
C1S | 100.00 | 1 | |
CHST14 | 100.00 | 1 | |
COL12A1 | 100.00 | 1 | |
COL1A1 | 100.00 | 1 | |
COL1A2 | 100.00 | 1 | |
COL3A1 | 100.00 | 1 | |
COL5A1 | 100.00 | 1 | |
COL5A2 | 100.00 | 1 | |
DSE | 100.00 | 1 | |
FKBP14 | 100.00 | 1 | |
FLNA | 100.00 | 1 | |
FLNB | 100.00 | 1 | |
PLOD1 | 100.00 | 1 | |
PRDM5 | 100.00 | 1 | |
RIN2 | 100.00 | 1 | |
SLC39A13 | 100.00 | 1 | |
TAB2 | 100.00 | 1 | |
XYLT1 | 100.00 | 1 | |
XYLT2 | 100.00 | 1 | |
ZNF469 | 100.00 | 1 |