Neuromuscular disorders (166 genes) - VUB

Gene panel Export to PDF
Full name:
Neuromuscular disorders (166 genes) - VUB
Description:
http://www.brightcore.be/mendeliome-neuromuscular
Type of panel:
Custom panel
Version number:
V11
Laboratory:
Centrum Medische Genetica - UZ Brussel VUB
Created:
16 Jul 2019 - 13:35
Changed:
28 Sep 2022 - 15:28
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ACADVL 0.00 0 No value for column 2
ACTA1 0.00 0 No value for column 2
AGRN 0.00 0 No value for column 2
ALDOA 0.00 0 No value for column 2
ALG14 0.00 0 No value for column 2
ALG2 99.94 0 No comment
ALS2 100.00 0 No comment
ANG 100.00 0 No comment
ANO5 100.00 0 No comment
ASAH1 99.94 0 No comment
ATP7A 100.00 0 No comment
ATXN2 89.10 0 No comment
B3GALNT2 85.88 0 No comment
B4GAT1 100.00 0 No comment
BAG3 100.00 0 No comment
BICD2 100.00 0 No comment
BIN1 100.00 0 No comment
BSCL2 100.00 0 No comment
C9ORF72 100.00 0 No comment
CAV3 100.00 0 No comment
CFH 100.00 0 No comment
CFL2 99.75 0 No comment
CHAT 100.00 0 No comment
CHKB 99.69 0 No comment
CHRNA1 100.00 0 No comment
CHRNB1 100.00 0 No comment
CHRND 100.00 0 No comment
CHRNE 100.00 0 No comment
CHRNG 100.00 0 No comment
COL6A1 100.00 0 No comment
COL6A2 100.00 0 No comment
COL6A3 100.00 0 No comment
COLQ 100.00 0 No comment
CORIN 98.90 0 No comment
CPT2 98.71 0 No comment
CRPPA 95.75 0 No comment
CRYAB 100.00 0 No comment
DAG1 100.00 0 No comment
DAO 100.00 0 No comment
DCTN1 100.00 0 No comment
DES 100.00 0 No comment
DGUOK 100.00 0 No comment
DMD 100.00 0 No comment
DNAJB2 100.00 0 No comment
DNAJB6 99.34 0 No comment
DNM2 99.95 0 No comment
DOK7 98.77 0 No comment
DOLK 100.00 0 No comment
DPAGT1 100.00 0 No comment
DPM1 100.00 0 No comment
DPM2 100.00 0 No comment
DPM3 100.00 0 No comment
DYNC1H1 100.00 0 No comment
DYSF 100.00 0 No comment
ECEL1 95.92 0 No comment
EMD 99.84 0 No comment
ENO3 100.00 0 No comment
ETFA 100.00 0 No comment
ETFB 100.00 0 No comment
ETFDH 100.00 0 No comment
EXOSC3 100.00 0 No comment
FBLN5 100.00 0 No comment
FBXO38 100.00 0 No comment
FDX2 100.00 0 No comment
FKRP 98.68 0 No comment
FKTN 100.00 0 No comment
FLNC 100.00 0 No comment
FUS 100.00 0 No comment
GAA 100.00 0 No comment
GARS1 99.53 0 No comment
GFPT1 99.98 0 No comment
GLE1 100.00 0 No comment
GMPPB 100.00 0 No comment
GNE 100.00 0 No comment
GRN 100.00 0 No comment
HADHA 100.00 0 No comment
HADHB 100.00 0 No comment
HARS1 100.00 0 No comment
HEXB 99.82 0 No comment
HNRNPA1 99.61 0 No comment
HNRNPA2B1 100.00 0 No comment
HSPB1 100.00 0 No comment
HSPB3 100.00 0 No comment
HSPB8 100.00 0 No comment
IGHMBP2 100.00 0 No comment
ISCU 99.39 0 No comment
KBTBD13 97.91 0 No comment
KLHL40 100.00 0 No comment
KLHL9 100.00 0 No comment
LAMA2 100.00 0 No comment
LAMB2 100.00 0 No comment
LARGE1 100.00 0 No comment
LAS1L 100.00 0 No comment
LDB3 100.00 0 No comment
LMNA 99.93 0 No comment
LPIN1 100.00 0 No comment
MATR3 100.00 0 No comment
MEGF10 100.00 0 No comment
MTM1 100.00 0 No comment
MUSK 100.00 0 No comment
MYBPC3 100.00 0 No comment
MYH3 100.00 0 No comment
MYH7 100.00 0 No comment
MYH7B 100.00 0 No comment
MYH8 100.00 0 No comment
MYOT 100.00 0 No comment
NEB 99.99 0 No comment
NEFH 84.73 0 No comment
OPTN 100.00 0 No comment
PABPN1 91.84 0 No comment
PFKM 100.00 0 No comment
PFN1 100.00 0 No comment
PGAM2 100.00 0 No comment
PGK1 100.00 0 No comment
PGM1 100.00 0 No comment
PHKA1 100.00 0 No comment
PHKB 100.00 0 No comment
PLEC 99.82 0 No comment
PLEKHG5 99.10 0 No comment
POLG 100.00 0 No comment
POMGNT1 100.00 0 No comment
POMGNT2 100.00 0 No comment
POMK 100.00 0 No comment
POMT1 100.00 0 No comment
POMT2 99.90 0 No comment
PREPL 100.00 0 No comment
PYGM 100.00 0 No comment
QDPR 99.04 0 No comment
RAPSN 100.00 0 No comment
REEP1 97.37 0 No comment
RXYLT1 99.84 0 No comment
RYR1 98.38 0 No comment
SCN4A 100.00 0 No comment
SELENON 84.04 0 No comment
SETX 100.00 0 No comment
SIGMAR1 96.60 0 No comment
SIL1 100.00 0 No comment
SLC18A3 100.00 0 No comment
SLC52A2 100.00 0 No comment
SLC52A3 100.00 0 No comment
SLC5A7 100.00 0 No comment
SMN1 96.55 0 No comment
SNAP25 100.00 0 No comment
SOD1 100.00 0 No comment
SQSTM1 93.68 0 No comment
SYT2 100.00 0 No comment
TAF15 100.00 0 No comment
TARDBP 100.00 0 No comment
TFG 100.00 0 No comment
TIA1 100.00 0 No comment
TNNI2 100.00 0 No comment
TNNT1 98.58 0 No comment
TNNT3 100.00 0 No comment
TNPO3 100.00 0 No comment
TPM2 100.00 0 No comment
TPM3 99.55 0 No comment
TRPV4 100.00 0 No comment
TSEN54 94.23 0 No comment
TTN 100.00 0 No comment
UBA1 100.00 0 No comment
UBQLN2 99.88 0 No comment
UNC13A 99.87 0 No comment
VAPB 100.00 0 No comment
VCP 98.45 0 No comment
VEGFA 98.73 0 No comment
VRK1 100.00 0 No comment