Optic atrophy - UGent
Full name: |
Optic atrophy - UGent
|
Description: |
|
Type of panel: | |
Version number: |
v2
|
Laboratory: | |
Created: |
17 Dec 2019 - 16:49
|
Changed: |
16 Dec 2022 - 13:55
|
Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ACO2 | 99.99 | 1 | |
AFG3L2 | 99.97 | 1 | |
ATAD3A | 99.62 | 1 | |
AUH | 99.95 | 1 | |
C19ORF12 | 99.99 | 1 | |
CISD2 | 96.27 | 1 | |
DNAJC19 | 99.76 | 1 | |
DNAJC30 | 100.00 | 1 | |
DNM1L | 99.40 | 1 | |
FDXR | 99.99 | 1 | |
MCAT | 99.99 | 1 | |
MECR | 99.63 | 1 | |
MED12 | 99.95 | 1 | |
MFF | 99.97 | 1 | |
MFN2 | 99.98 | 1 | |
MTPAP | 99.97 | 1 | |
MTRFR | 99.87 | 1 | |
NBAS | 99.86 | 1 | |
NDUFS1 | 99.79 | 1 | |
NDUFS2 | 99.66 | 1 | |
NR2F1 | 99.99 | 1 | |
OPA3 | 100.00 | 1 | |
POLG | 100.00 | 1 | |
RTN4IP1 | 99.98 | 1 | |
SLC25A46 | 99.88 | 1 | |
SLC44A1 | 99.90 | 1 | |
SLC52A2 | 100.00 | 1 | |
SPG7 | 99.99 | 1 | |
SSBP1 | 100.00 | 1 | |
TIMM8A | 100.00 | 1 | |
TMEM126A | 99.88 | 1 | |
TSFM | 100.00 | 1 | |
WFS1 | 99.99 | 1 | |
YME1L1 | 99.87 | 1 | |
ZNHIT3 | 62.89 | 1 |