ABCC2 | Belgian Genetic Tests database

Analyte Export to PDF
Name:	ATP binding cassette subfamily C member 2
Symbol:	ABCC2
Version of Orphanet:	2022-05-01 04:55:23
Synonyms:	DJS MRP2 cMRP
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	01 May 2022 - 06:55

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Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
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
CYP21A2	99.91	1
CPT1A	99.98	1
CPT2	99.65	1
CREB3L3	99.98	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
GBA	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
PODXL	99.99	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
PNPLA3	100.00	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
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
PMP22	99.99	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
TTC37	99.82	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

Non-cholestatic jaundice with direct bilirubin (3 genes) - UCL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ABCC2	100.00	1	Custom Gastro-pneumo panel
SLCO1B1	100.00	1	Part of custom Gastro-pneumo panel
SLCO1B3	100.00	1	Custom Gastro-pneumo panel