Metabolic disorders (213 genes) - VUB

Gene panel Export to PDF
Full name:
Metabolic disorders (213 genes) - VUB
Abbreviation:
MD
Type of panel:
Custom panel
Version number:
V11
Laboratory:
Centrum Medische Genetica - UZ Brussel VUB
Created:
16 Jul 2019 - 11:41
Changed:
18 Aug 2022 - 10:55
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ABAT 100.00 0 No comment
ABCD1 99.93 0 No comment
ACAT1 97.28 0 No comment
ACOX1 100.00 0 No comment
AGL 99.98 0 No comment
AGPS 100.00 0 No comment
AGXT 100.00 0 No comment
ALDH18A1 100.00 0 No comment
ALDH7A1 100.00 0 No comment
ALDOA 100.00 0 No comment
ALDOB 100.00 0 No comment
ALG1 92.65 0 No comment
ALG10 100.00 0 No comment
ALG11 100.00 0 No comment
ALG12 100.00 0 No comment
ALG13 99.96 0 No comment
ALG14 100.00 0 No comment
ALG2 99.94 0 No comment
ALG3 99.22 0 No comment
ALG5 99.99 0 No comment
ALG6 100.00 0 No comment
ALG8 95.91 0 No comment
ALG9 98.65 0 No comment
AMACR 99.83 0 No comment
AMT 99.94 0 No comment
ASPA 100.00 0 No comment
ATP6AP1 99.51 0 No comment
ATP6V0A2 100.00 0 No comment
ATP6V1A 100.00 0 No comment
ATP6V1E1 100.00 0 No comment
ATP7A 100.00 0 No comment
ATP9B 99.97 0 No comment
B3GALNT2 85.88 0 No comment
B3GALT6 56.12 0 No comment
B3GAT3 95.56 0 No comment
B3GLCT 94.89 0 No comment
B4GALNT1 100.00 0 No comment
B4GALT1 100.00 0 No comment
B4GALT7 93.23 0 No comment
BCKDHA 100.00 0 No comment
BCKDHB 100.00 0 No comment
BTD 100.00 0 No comment
CAD 100.00 0 No comment
CCDC115 100.00 0 No comment
CHST14 98.57 0 No comment
CHST3 100.00 0 No comment
CHST6 100.00 0 No comment
CHSY1 91.67 0 No comment
COG1 99.24 0 No comment
COG2 100.00 0 No comment
COG3 100.00 0 No comment
COG4 100.00 0 No comment
COG5 100.00 0 No comment
COG6 100.00 0 No comment
COG7 100.00 0 No comment
COG8 100.00 0 No comment
CRPPA 95.75 0 No comment
CTH 100.00 0 No comment
D2HGDH 100.00 0 No comment
DAD1 100.00 0 No comment
DBH 100.00 0 No comment
DBT 100.00 0 No comment
DDC 100.00 0 No comment
DDOST 100.00 0 No comment
DHDDS 100.00 0 No comment
DNM1L 100.00 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
ENO3 100.00 0 No comment
EOGT 100.00 0 No comment
EXT1 100.00 0 No comment
EXT2 100.00 0 No comment
FANCA 100.00 0 No comment
FKRP 98.68 0 No comment
FKTN 100.00 0 No comment
FUT1 100.00 0 No comment
G6PC1 100.00 0 No comment
GAA 100.00 0 No comment
GABRG2 92.03 0 No comment
GALE 100.00 0 No comment
GALK1 99.95 0 No comment
GALNT3 100.00 0 No comment
GALT 100.00 0 No comment
GAMT 98.60 0 No comment
GANAB 100.00 0 No comment
GATM 99.26 0 No comment
GBE1 100.00 0 No comment
GCDH 100.00 0 No comment
GCH1 96.30 0 No comment
GCSH 76.04 0 No comment
GFPT1 99.98 0 No comment
GLDC 96.53 0 No comment
GMPPA 100.00 0 No comment
GMPPB 100.00 0 No comment
GNE 100.00 0 No comment
GNMT 100.00 0 No comment
GNPAT 100.00 0 No comment
GYS1 100.00 0 No comment
GYS2 100.00 0 No comment
HGD 100.00 0 No comment
HLCS 100.00 0 No comment
HMGCL 100.00 0 No comment
HPRT1 94.60 0 No comment
HSD17B4 100.00 0 No comment
IVD 100.00 0 No comment
LAMP2 100.00 0 No comment
LARGE1 100.00 0 No comment
LDHA 100.00 0 No comment
LFNG 82.55 0 No comment
MAGT1 100.00 0 No comment
MAN1B1 99.99 0 No comment
MAOA 99.95 0 No comment
MCCC1 100.00 0 No comment
MCCC2 99.99 0 No comment
MGAT2 100.00 0 No comment
MMAA 100.00 0 No comment
MMAB 100.00 0 No comment
MMACHC 100.00 0 No comment
MMUT 100.00 0 No comment
MOGS 98.73 0 No comment
MPDU1 100.00 0 No comment
MPI 100.00 0 No comment
NANS 100.00 0 No comment
NGLY1 99.98 0 No comment
NUS1 100.00 0 No comment
OAT 100.00 0 No comment
OST4 100.00 0 No comment
PCCA 100.00 0 No comment
PCCB 99.98 0 No comment
PEX1 100.00 0 No comment
PEX10 88.47 0 No comment
PEX11B 100.00 0 No comment
PEX12 100.00 0 No comment
PEX13 100.00 0 No comment
PEX14 100.00 0 No comment
PEX16 100.00 0 No comment
PEX19 100.00 0 No comment
PEX2 100.00 0 No comment
PEX26 100.00 0 No comment
PEX3 100.00 0 No comment
PEX5 100.00 0 No comment
PEX6 98.56 0 No comment
PEX7 91.13 0 No comment
PFKM 100.00 0 No comment
PGAM2 100.00 0 No comment
PGAP1 100.00 0 No comment
PGAP2 100.00 0 No comment
PGAP3 99.90 0 No comment
PGM1 100.00 0 No comment
PGM2 100.00 0 No comment
PGM3 99.99 0 No comment
PHGDH 100.00 0 No comment
PHKA1 100.00 0 No comment
PHKA2 100.00 0 No comment
PHKB 100.00 0 No comment
PHKG2 100.00 0 No comment
PIGA 100.00 0 No comment
PIGC 100.00 0 No comment
PIGG 100.00 0 No comment
PIGL 100.00 0 No comment
PIGM 100.00 0 No comment
PIGN 100.00 0 No comment
PIGO 100.00 0 No comment
PIGV 100.00 0 No comment
PIGW 100.00 0 No comment
PIGY 100.00 0 No comment
PMM2 100.00 0 No comment
PNPO 100.00 0 No comment
POFUT1 100.00 0 No comment
POGLUT1 100.00 0 No comment
POMGNT1 100.00 0 No comment
POMT1 100.00 0 No comment
POMT2 99.90 0 No comment
PRKCSH 100.00 0 No comment
PSAT1 100.00 0 No comment
PYGL 100.00 0 No comment
PYGM 100.00 0 No comment
RFT1 100.00 0 No comment
RPN1 100.00 0 No comment
RPN2 100.00 0 No comment
RXYLT1 99.84 0 No comment
SCP2 100.00 0 No comment
SEC23B 100.00 0 No comment
SLC25A22 100.00 0 No comment
SLC2A1 99.94 0 No comment
SLC35A1 100.00 0 No comment
SLC35A2 100.00 0 No comment
SLC35A3 100.00 0 No comment
SLC35C1 100.00 0 No comment
SLC35D1 99.99 0 No comment
SLC39A8 97.00 0 No comment
SLC3A1 100.00 0 No comment
SLC6A19 100.00 0 No comment
SLC6A8 98.78 0 No comment
SLC7A9 100.00 0 No comment
SPR 96.81 0 No comment
SRD5A3 99.42 0 No comment
SSR3 100.00 0 No comment
SSR4 99.93 0 No comment
ST3GAL3 100.00 0 No comment
ST3GAL5 92.64 0 No comment
STT3A 100.00 0 No comment
STT3B 99.25 0 No comment
TMEM165 89.91 0 No comment
TMEM199 100.00 0 No comment
TRAPPC11 100.00 0 No comment
TUSC3 100.00 0 No comment
VPS13B 99.25 0 No comment
XYLT1 88.83 0 No comment
XYLT2 98.70 0 No comment