- Analytes
- ABCB4
ABCB4
Name: |
ATP binding cassette subfamily B member 4
|
Symbol: |
ABCB4
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
GBD1
MDR2
PFIC-3
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
- Cholelithiasis, Low Phospholipid associated (LPAC syndrome)
- Cholestasis (gene panel)
- Cholestasis, intrahepatic (1 gene among ATP8B1, ABCB11,ABCB4)
- Cholestasis, intrahepatic (2 genes among ATP8B1, ABCB11, ABCB4)
- Cholestasis, intrahepatic of pregnancy (2 genes)
- Cholestasis, progressive familial intrahepatic (gene panel)
- Hepatology (gene panel)
- Primary Electrical disorders / Brugada syndrome / Long QT syndrome (LQT) / Short QT syndrome (SQT) / Arrhythmogenic right ventricular cardiomyopathy (ARVC) / Catecholaminergic polymorphic ventricular tachycardia (CPVT) (gene panel)
-
Cholelithiasis, Low Phospholipid associated (LPAC syndrome) (1 gene) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCB4 -
Cholestasis (40 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCB11 100.00 1 Part of Gastro-pneumo panel ABCB4 100.00 1 Part of Gastro-pneumo panel AKR1D1 100.00 1 Part of Gastro-pneumo panel AMACR 100.00 1 Part of Gastro-pneumo panel ATP8B1 100.00 1 Part of Gastro-pneumo panel BAAT 100.00 1 Part of Gastro-pneumo panel BCS1L 100.00 1 Part of Gastro-pneumo panel CC2D2A 100.00 1 Part of Gastro-pneumo panel CLDN1 100.00 1 Part of Gastro-pneumo panel CYP27A1 100.00 1 Part of Gastro-pneumo panel CYP7B1 100.00 1 Part of Gastro-pneumo panel DCDC2 100.00 1 Part of Gastro-pneumo panel DGUOK 100.00 1 Part of Gastro-pneumo panel HNF1B 100.00 1 Part of Gastro-pneumo panel HSD3B7 100.00 1 Part of Gastro-pneumo panel INVS 100.00 1 Part of Gastro-pneumo panel JAG1 100.00 1 Part of Gastro-pneumo panel MKS1 100.00 1 Part of Gastro-pneumo panel MPV17 100.00 1 Part of Gastro-pneumo panel NOTCH2 100.00 1 Part of Gastro-pneumo panel NPC1 100.00 1 Part of Gastro-pneumo panel NPC2 100.00 1 Part of Gastro-pneumo panel NPHP1 100.00 1 Part of Gastro-pneumo panel NPHP3 100.00 1 Part of Gastro-pneumo panel NPHP4 100.00 1 Part of Gastro-pneumo panel NR1H4 100.00 1 Part of Gastro-pneumo panel PKHD1 100.00 1 Part of Gastro-pneumo panel PNPLA3 0.00 1 Part of Gastro-pneumo panel / only rs738409 and rs2294918 POLG 100.00 1 Part of Gastro-pneumo panel SLC25A13 100.00 1 Part of Gastro-pneumo panel SMPD1 100.00 1 Part of Gastro-pneumo panel TALDO1 100.00 1 Part of Gastro-pneumo panel TJP2 100.00 1 Part of Gastro-pneumo panel TM6SF2 0.00 1 Part of Gastro-pneumo panel / only rs58542926 TMC4 0.00 1 Part of Gastro-pneumo panel / only rs641738 TMEM216 100.00 1 Part of Gastro-pneumo panel TRMU 100.00 1 Part of Gastro-pneumo panel UGT1A1 100.00 1 Part of Gastro-pneumo panel VIPAS39 100.00 1 Part of Gastro-pneumo panel VPS33B 100.00 1 Part of Gastro-pneumo panel -
Cholestasis, intrahepatic of pregnancy (2 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCB4 100.00 1 Part of Gastro-pneumo panel ATP8B1 100.00 1 Part of Gastro-pneumo panel -
Cholestasis, progressive familial intrahepatic (5 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCB11 100.00 1 Part of Gastro-pneumo panel ABCB4 100.00 1 Part of Gastro-pneumo panel ATP8B1 100.00 1 Part of Gastro-pneumo panel NR1H4 100.00 1 Part of Gastro-pneumo panel TJP2 100.00 1 Part of Gastro-pneumo panel -
Hepatology panel - UGent
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 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 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 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 SKIC3 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 -
Primary Electrical disorders/Brugada syndrome (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCB4 100.00 0 ABCC9 100.00 0 ACTN2 100.00 0 AKAP9 100.00 0 ANK2 100.00 0 CACNA1C 100.00 0 CACNA2D1 100.00 0 CACNB2 100.00 0 CALM1 100.00 0 CALM2 100.00 0 CALM3 100.00 0 CASQ2 100.00 0 CAV3 100.00 0 CTNNA3 100.00 0 DES 100.00 0 DPP6 100.00 0 DSC2 100.00 0 DSG2 100.00 0 DSP 100.00 0 GJA1 100.00 0 GJA5 100.00 0 GNB5 100.00 0 GPD1L 100.00 0 HCN4 100.00 0 JUP 100.00 0 KCNA5 100.00 0 KCND3 100.00 0 KCNE1 100.00 0 KCNE2 100.00 0 KCNE3 100.00 0 KCNE5 100.00 0 KCNH2 100.00 0 KCNJ2 100.00 0 KCNJ5 100.00 0 KCNJ8 100.00 0 KCNK17 100.00 0 KCNQ1 100.00 0 LMNA 100.00 0 NKX2-5 100.00 0 NOS1AP 100.00 0 NPPA 100.00 0 PKP2 100.00 0 PLN 100.00 0 PPA2 100.00 0 PRKAG2 100.00 0 RANGRF 100.00 0 RRAD 100.00 0 RYR2 100.00 0 SCN1B 100.00 0 SCN2B 100.00 0 SCN3B 100.00 0 SCN4B 100.00 0 SCN5A 100.00 0 SCN10A 100.00 0 SLMAP 100.00 0 SNTA1 100.00 0 TGFB3 100.00 0 TMEM43 100.00 0 TRDN 100.00 0 TRPM4 100.00 0 CDH2 100.00 0 CLCA2 100.00 0 FLNC 100.00 0 GNB2 100.00 0 MYL3 100.00 0 MYL4 100.00 0 RBM20 100.00 0 RNF207 100.00 0 SLC4A3 100.00 0 TANGO2 100.00 0 TECRL 100.00 0 TNNI3K 100.00 0 TTN 100.00 0