Leukodystrophy - UGent

Gene panel Export to PDF
Full name:
Leukodystrophy - UGent
Version number:
v2
Laboratory:
Centrum Medische Genetica - UZ Gent
Created:
18 Jun 2019 - 11:08
Changed:
20 Dec 2022 - 13:50
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
AARS2 99.98 1
ABAT 99.98 1
ABCD1 99.98 1
ACBD5 99.97 1
ACD 99.99 1
ACER3 99.76 1
ACOX1 99.98 1
ACP5 100.00 1
ACTL6B 99.90 1
ADAR 99.84 1
ADGRG1 99.90 1
ADSL 99.93 1
AGA 99.92 1
AIFM1 99.92 1
AIMP1 99.97 1
AIMP2 99.99 1
ALDH3A2 99.95 1
ALDH5A1 96.19 1
APP 99.92 1
ARSA 99.99 1
ASAH1 99.90 1
ASPA 99.98 1
ATAD3A 99.62 1
ATP7A 99.87 1
ATP7B 100.00 1
AUH 99.95 1
B3GALNT2 92.79 1
BCAP31 99.95 1
BCS1L 99.99 1
BOLA3 99.22 1
BTD 100.00 1
CBS 17.79 1
CFH 99.97 1
CIC 98.32 1
CLCN2 100.00 1
CLN3 99.92 1
CLN5 100.00 1
CLN6 100.00 1
CLN8 100.00 1
CNP 99.98 1
CNTNAP1 99.98 1
COA8 99.94 1
COL4A1 99.99 1
COL4A2 99.98 1
COX10 99.99 1
COX15 100.00 1
CSF1R 99.92 1
CTC1 100.00 1
CTSA 99.98 1
CTSD 100.00 1
CTSF 99.96 1
CYP21A2 99.91 1
CYP27A1 100.00 1
DAG1 100.00 1
DARS1 98.85 1
DARS2 98.31 1
DCAF17 99.84 1
DDHD2 99.97 1
DEGS1 99.99 1
DGUOK 99.93 1
DLAT 99.65 1
DLD 99.89 1
DMXL2 99.86 1
DNAJC5 99.99 1
EARS2 99.96 1
ECHS1 100.00 1
EIF2AK1 99.90 1
EIF2AK2 99.70 1
EIF2B1 99.98 1
EIF2B2 99.90 1
EIF2B3 97.26 1
EIF2B4 99.96 1
EIF2B5 99.98 1
EPRS1 99.53 1
ERCC2 99.98 1
ERCC3 99.90 1
ERCC6 99.60 1
ERCC8 99.79 1
FA2H 99.98 1
FAR1 99.82 1
FARS2 100.00 1
FASTKD2 99.93 1
FBXL4 100.00 1
FDX2 99.99 1
FIG4 99.83 1
FKTN 99.94 1
FLVCR2 100.00 1
FOLR1 100.00 1
FUCA1 98.72 1
GALC 99.92 1
GALT 100.00 1
GAN 99.98 1
GBE1 99.73 1
GFAP 99.99 1
GFM1 99.95 1
GFM2 99.87 1
GJA1 100.00 1
GJB1 100.00 1
GJC2 100.00 1
GLA 99.90 1
GLB1 100.00 1
GM2A 100.00 1
GNAS 100.00 1
GPHN 99.94 1
GRN 100.00 1
GTF2H5 100.00 1
HEPACAM 100.00 1
HEXA 99.99 1
HEXB 99.91 1
HIKESHI 99.78 1
HLCS 99.97 1
HMGCL 99.31 1
HSD17B4 99.71 1
HSPD1 83.42 1
HTRA1 100.00 1
HYCC1 99.81 1
IBA57 100.00 1
IFIH1 99.84 1
IKBKG 57.34 1
ISCA2 100.00 1
IVD 100.00 1
JAM3 100.00 1
KARS1 99.98 1
L2HGDH 99.92 1
LAMA2 99.95 1
LARGE1 100.00 1
LARS2 99.96 1
LIPT1 99.89 1
LIPT2 99.99 1
LMNB1 99.73 1
LYRM7 99.98 1
MAN2B1 99.99 1
MANBA 99.81 1
MARS2 100.00 1
MCOLN1 100.00 1
MFSD8 99.70 1
MLC1 99.99 1
MMUT 99.68 1
MOCS1 99.95 1
MOCS2 99.96 1
MPLKIP 99.99 1
MPV17 99.98 1
MRPS34 100.00 1
MTFMT 99.98 1
MTHFR 99.97 1
MTO1 90.25 1
NAXD 99.99 1
NAXE 99.99 1
NDUFA2 99.95 1
NDUFA9 100.00 1
NDUFAF1 100.00 1
NDUFAF3 100.00 1
NDUFAF4 99.95 1
NDUFAF6 99.86 1
NDUFS1 99.79 1
NDUFS2 99.66 1
NDUFS4 99.99 1
NDUFS7 99.99 1
NDUFS8 100.00 1
NDUFV1 99.99 1
NEU1 99.98 1
NKX6-2 100.00 1
NOTCH3 99.99 1
NPC1 99.99 1
NPC2 100.00 1
NTNG2 99.98 1
NUBPL 99.62 1
OCLN 82.91 1
OCRL 99.89 1
PAH 99.96 1
PARS2 99.99 1
PCCA 99.90 1
PCCB 99.97 1
PDGFB 99.99 1
PDGFRB 99.99 1
PDHA1 99.04 1
PDHB 99.94 1
PDHX 99.64 1
PDP1 100.00 1
PEX1 98.80 1
PEX10 100.00 1
PEX11B 99.62 1
PEX12 100.00 1
PEX13 99.36 1
PEX14 100.00 1
PEX16 99.94 1
PEX19 99.25 1
PEX2 100.00 1
PEX26 100.00 1
PEX3 99.85 1
PEX5 99.89 1
PEX6 99.99 1
PEX7 99.72 1
PLEKHG2 99.99 1
PLP1 99.98 1
PLPBP 99.99 1
PMPCB 99.94 1
PNPT1 99.56 1
POLG 100.00 1
POLR1C 100.00 1
POLR3A 99.97 1
POLR3B 99.94 1
POLR3K 100.00 1
POMGNT1 99.69 1
POMT1 99.96 1
POMT2 99.98 1
PPT1 97.48 1
PRF1 100.00 1
PSAP 99.94 1
PSAT1 99.98 1
PSPH 99.09 1
PYCR2 99.95 1
QDPR 99.92 1
RARS1 99.76 1
RNASEH2A 99.95 1
RNASEH2B 99.94 1
RNASEH2C 99.99 1
RNASET2 99.99 1
SAMHD1 99.98 1
SCP2 94.94 1
SDHA 99.98 1
SDHAF1 99.99 1
SDHAF2 99.96 1
SDHB 97.32 1
SDHD 82.93 1
SEPSECS 99.78 1
SGO1 99.90 1
SHANK3 98.45 1
SLC13A3 99.98 1
SLC16A2 99.97 1
SLC17A5 99.71 1
SLC20A2 99.95 1
SLC25A12 99.72 1
SLC44A1 99.90 1
SLC7A2 99.97 1
SNAP29 99.85 1
SNORD118 100.00 1
SOX10 100.00 1
SPG11 99.89 1
STN1 99.88 1
STX11 100.00 1
STXBP2 100.00 1
SUCLA2 99.96 1
SUMF1 99.95 1
SUOX 100.00 1
SURF1 100.00 1
TACO1 100.00 1
TMEM106B 99.92 1
TMEM63A 99.91 1
TREM2 100.00 1
TREX1 100.00 1
TSEN54 100.00 1
TTR 100.00 1
TUBB4A 100.00 1
TWNK 100.00 1
TYMP 99.87 1
TYROBP 99.95 1
UBTF 99.99 1
UFM1 99.25 1
UNC13D 100.00 1
VPS11 99.99 1
WARS2 97.72 1
WT1 99.99 1
XPR1 99.13 1
ZFYVE26 100.00 1