Hepatology panel - UGent

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Full name:
Hepatology panel - UGent
Version number:
v4
Laboratory:
Centrum Medische Genetica - UZ Gent
Created:
05 Dec 2022 - 14:08
Changed:
21 Dec 2022 - 08:32
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ABCB11 99.86 1
ABCB4 99.71 1
ABCC2 99.94 1
ABCD3 92.70 1
ABCG5 99.96 1
ABCG8 99.95 1
ACADM 96.14 1
ACADVL 100.00 1
ACAT1 99.81 1
ACOX2 99.81 1
ADK 99.78 1
AGL 97.67 1
AGPAT2 100.00 1
AKR1D1 99.91 1
ALAD 99.99 1
ALDOA 100.00 1
ALDOB 100.00 1
ALG8 95.49 1
ALG9 99.73 1
ALMS1 99.90 1
AMACR 100.00 1
ANKS6 100.00 1
AP1S1 99.49 1
ARG1 99.95 1
ASL 99.98 1
ASS1 77.52 1
ATP7B 100.00 1
ATP8B1 99.94 1
BAAT 99.98 1
BCS1L 99.99 1
BSCL2 99.99 1
BTD 100.00 1
CAVIN1 100.00 1
CC2D2A 99.95 1
CCDC115 99.90 1
CFTR 99.45 1
CLDN1 99.99 1
COG6 99.86 1
COG7 99.74 1
CPT1A 99.98 1
CPT2 99.65 1
CREB3L3 99.98 1
CYP21A2 99.91 1
CYP27A1 100.00 1
CYP7A1 99.99 1
CYP7B1 99.82 1
DCDC2 99.96 1
DGUOK 99.93 1
DHCR7 99.97 1
DKC1 99.59 1
DLD 99.89 1
DNAJB11 99.97 1
EHHADH 99.99 1
EIF2AK3 97.43 1
ENO3 100.00 1
EPHX1 99.97 1
EPM2A 99.99 1
ETFA 99.88 1
ETFB 100.00 1
FANCA 99.98 1
FARSA 100.00 1
FARSB 99.64 1
FBP1 100.00 1
FTH1 22.62 1
G6PC1 99.93 1
GAA 100.00 1
GALE 99.90 1
GALK1 100.00 1
GALM 100.00 1
GALT 100.00 1
GANAB 99.97 1
GBA1 96.92 1
GBE1 99.73 1
GFM1 99.95 1
GNAS 100.00 1
GUSB 95.07 1
GYS1 99.98 1
GYS2 99.86 1
HADHA 99.98 1
HAMP 99.99 1
HFE 100.00 1
HJV 99.99 1
HLCS 99.97 1
HNF1B 100.00 1
HSD17B4 99.71 1
HSD3B7 100.00 1
IARS1 99.89 1
IFT140 100.00 1
INVS 99.94 1
IVD 100.00 1
JAG1 100.00 1
KIF12 99.99 1
KRT18 47.42 1
KRT8 71.60 1
LAMP2 98.95 1
LARS1 99.87 1
LDHA 99.94 1
LIPA 99.96 1
LRP5 99.95 1
LSR 99.98 1
MARS1 99.97 1
MCEE 99.90 1
MKS1 99.92 1
MMUT 99.68 1
MPI 99.95 1
MPV17 99.98 1
MVK 99.97 1
MYO5B 100.00 1
NBAS 99.86 1
NEK9 99.99 1
NEU1 99.98 1
NGLY1 99.93 1
NHLRC1 100.00 1
NOTCH2 99.03 1
NPC1 99.99 1
NPC2 100.00 1
NPHP1 99.05 1
NPHP3 99.89 1
NPHP4 99.98 1
NR1H4 99.49 1
OXCT1 99.82 1
PCCA 99.90 1
PCCB 99.97 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
PFKM 99.57 1
PGAM2 100.00 1
PGK1 99.93 1
PGM1 96.77 1
PHKA1 99.84 1
PHKA2 99.92 1
PHKB 99.69 1
PHKG2 99.86 1
PKD1 99.98 1
PKD2 99.91 1
PKHD1 99.95 1
PMM2 99.93 1
PMP22 99.99 1
PNPLA3 100.00 1
PODXL 99.99 1
POLG 100.00 1
PPM1F 100.00 1
PRKAG2 99.96 1
PRKCSH 99.99 1
PYGL 99.99 1
PYGM 99.96 1
RBCK1 100.00 1
RINT1 99.99 1
RPGRIP1L 96.35 1
SBDS 99.93 1
SCO1 99.98 1
SEC63 99.84 1
SERPINA1 100.00 1
SKIC3 99.82 1
SLC10A1 99.99 1
SLC10A2 99.99 1
SLC16A1 99.26 1
SLC25A13 99.67 1
SLC25A20 100.00 1
SLC2A2 99.96 1
SLC30A10 99.99 1
SLC51A 100.00 1
SLCO1B1 98.69 1
SLCO1B3 99.85 1
SMPD1 100.00 1
STN1 99.88 1
STT3B 99.96 1
TALDO1 100.00 1
TANGO2 99.85 1
TFR2 99.97 1
TJP2 99.99 1
TMEM216 99.98 1
TMEM67 99.69 1
TRMU 100.00 1
TWNK 100.00 1
UGT1A1 99.98 1
UNC45A 100.00 1
UROS 100.00 1
USP53 99.92 1
UTP4 99.91 1
VIPAS39 99.87 1
VPS33B 99.95 1
VPS50 98.35 1
WDR83OS 100.00 1
YARS1 99.29 1
ZFYVE19 99.99 1