Belgian Genetic Tests database- Analytes
- ATP2B2
ATP2B2
| Name: |
ATPase plasma membrane Ca2+ transporting 2
|
| Symbol: |
ATP2B2
|
| Version of Orphanet: |
2023-06-22 14:14:43
|
| Synonyms: |
PMCA2
plasma membrane Ca2+ pump 2
plasma membrane calcium-transporting ATPase 2
|
| XREF(s): | |
| Created: |
13 May 2019 - 01:01
|
| Changed: |
22 Jun 2023 - 16:14
|
-
Ataxia (348 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment ABCB7 99.99 0 No comment ABCD1 97.56 0 No comment ABHD12 88.30 0 No comment ABHD5 99.85 0 No comment ACADVL 98.04 0 No comment ACO2 100.00 0 No comment COQ8A 99.92 0 No comment AFG3L2 94.80 0 No comment AHI1 100.00 0 No comment ALAS2 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH5A1 84.13 0 No comment ALG6 100.00 0 No comment ALS2 100.00 0 No comment AMACR 96.78 0 No comment AMPD2 99.90 0 No comment AMT 100.00 0 No comment ANO10 100.00 0 No comment AP1S2 100.00 0 No comment APTX 99.96 0 No comment ARL13B 99.98 0 No comment ARL6 100.00 0 No comment ARSA 100.00 0 No comment ARX 100.00 0 No comment ASPA 100.00 0 No comment ATCAY 100.00 0 No comment ATG5 100.00 0 No comment ATL1 99.89 0 No comment ATM 100.00 0 No comment ATP1A3 100.00 0 No comment ATP2B2 100.00 0 No comment ATP2B3 99.89 0 No comment ATP7B 100.00 0 No comment ATP8A2 99.91 0 No comment ATXN1 100.00 0 No comment ATXN10 98.19 0 No comment ATXN2 93.25 0 No comment ATXN3 99.47 0 No comment ATXN7 98.67 0 No comment B9D1 99.89 0 No comment BBS1 100.00 0 No comment BBS10 100.00 0 No comment BBS12 100.00 0 No comment BBS2 100.00 0 No comment BBS4 99.97 0 No comment BBS5 100.00 0 No comment BBS7 99.99 0 No comment BBS9 99.93 0 No comment BEAN1 100.00 0 No comment BIVM 100.00 0 No comment BSCL2 100.00 0 No comment BTD 100.00 0 No comment TWNK 100.00 0 No comment MTRFR 100.00 0 No comment C19ORF12 100.00 0 No comment CPLANE1 100.00 0 No comment CA8 100.00 0 No comment CACNA1A 99.53 0 No comment CACNA1G 99.97 0 No comment CACNB4 99.95 0 No comment CAMTA1 99.98 0 No comment CAPN1 99.97 0 No comment CASK 99.99 0 No comment CC2D2A 100.00 0 No comment CCDC88C 99.64 0 No comment CEP290 100.00 0 No comment CEP41 100.00 0 No comment CHMP1A 100.00 0 No comment CLCN2 100.00 0 No comment CLN5 98.80 0 No comment CLN6 90.40 0 No comment CLPP 97.95 0 No comment COA7 100.00 0 No comment COASY 100.00 0 No comment COG5 99.95 0 No comment COQ2 99.66 0 No comment COQ6 100.00 0 No comment COQ9 100.00 0 No comment COX20 95.39 0 No comment CP 100.00 0 No comment CRAT 99.29 0 No comment CSTB 98.75 0 No comment CWF19L1 100.00 0 No comment CYP27A1 99.38 0 No comment CYP2U1 93.20 0 No comment CYP7B1 95.41 0 No comment DARS1 100.00 0 No comment DARS2 100.00 0 No comment DDB2 100.00 0 No comment DDHD2 100.00 0 No comment DLAT 100.00 0 No comment DMXL2 100.00 0 No comment DNAJC19 99.65 0 No comment DNAJC3 99.99 0 No comment DNAJC5 100.00 0 No comment DNMT1 99.54 0 No comment EBF3 99.94 0 No comment EEF2 100.00 0 No comment EIF2B1 100.00 0 No comment EIF2B2 99.61 0 No comment EIF2B3 98.87 0 No comment EIF2B4 100.00 0 No comment EIF2B5 100.00 0 No comment ELOVL4 100.00 0 No comment ELOVL5 100.00 0 No comment EPM2A 97.21 0 No comment ERCC2 99.22 0 No comment ERCC3 100.00 0 No comment ERCC4 99.99 0 No comment ERCC5 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment FA2H 95.71 0 No comment FARS2 100.00 0 No comment FBXL4 100.00 0 No comment FDXR 100.00 0 No comment FGF14 100.00 0 No comment FLVCR1 100.00 0 No comment FMR1 99.99 0 No comment FOLR1 100.00 0 No comment FRMD7 99.98 0 No comment FXN 100.00 0 No comment GALC 98.98 0 No comment GBA1 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCDH 100.00 0 No comment GCLC 99.98 0 No comment GCSH 73.97 0 No comment GFAP 100.00 0 No comment GJC2 96.72 0 No comment GLB1 100.00 0 No comment GLDC 97.39 0 No comment GLRX5 100.00 0 No comment GM2A 100.00 0 No comment GOSR2 100.00 0 No comment GPAA1 95.08 0 No comment GPR143 89.09 0 No comment ADGRG1 99.99 0 No comment GRID2 100.00 0 No comment GRM1 99.99 0 No comment GSS 100.00 0 No comment HARS2 100.00 0 No comment HEPACAM 99.85 0 No comment HERC1 100.00 0 No comment HEXA 100.00 0 No comment HEXB 99.19 0 No comment HIBCH 100.00 0 No comment HPRT1 92.71 0 No comment HTRA1 75.65 0 No comment IFRD1 98.86 0 No comment IGDCC3 95.07 0 No comment INPP5E 99.14 0 No comment IRF2BPL 97.56 0 No comment ITM2B 100.00 0 No comment ITPR1 99.99 0 No comment KCNA1 100.00 0 No comment KCNC3 76.20 0 No comment KCND3 100.00 0 No comment KCNJ10 100.00 0 No comment KCNJ6 100.00 0 No comment KCNMA1 99.93 0 No comment WASHC5 100.00 0 No comment RUBCN 96.60 0 No comment NEXMIF 100.00 0 No comment KIF1A 98.74 0 No comment KIF1C 100.00 0 No comment KIF5A 100.00 0 No comment KIF5C 100.00 0 No comment KIF7 99.64 0 No comment L2HGDH 99.75 0 No comment LAMA1 99.79 0 No comment LAMB1 100.00 0 No comment LARS2 100.00 0 No comment LMNB1 97.00 0 No comment LRPPRC 98.80 0 No comment LYST 100.00 0 No comment MFSD8 100.00 0 No comment MKKS 100.00 0 No comment MKS1 100.00 0 No comment MLC1 98.57 0 No comment MMACHC 100.00 0 No comment MME 100.00 0 No comment MRE11 99.05 0 No comment MSTO1 99.96 0 No comment MTFMT 97.83 0 No comment MTPAP 99.98 0 No comment MTRR 100.00 0 No comment MTTP 100.00 0 No comment MVK 100.00 0 No comment NANS 100.00 0 No comment NDUFAF6 95.61 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS4 99.96 0 No comment NDUFS7 93.34 0 No comment NDUFS8 100.00 0 No comment NDUFV1 99.62 0 No comment NEFL 99.62 0 No comment NEU1 100.00 0 No comment NHLRC1 96.01 0 No comment NKX6-2 94.10 0 No comment NOL3 100.00 0 No comment NOP56 99.99 0 No comment NOTCH3 93.46 0 No comment NPC1 97.50 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NUBPL 99.92 0 No comment OCLN 100.00 0 No comment OFD1 97.13 0 No comment MED12 99.98 0 No comment OPA3 100.00 0 No comment OPHN1 99.94 0 No comment OTUD4 100.00 0 No comment PAX6 100.00 0 No comment PDGFRB 99.98 0 No comment PDHX 100.00 0 No comment PDSS1 85.11 0 No comment PDSS2 100.00 0 No comment PDYN 100.00 0 No comment PEX10 87.10 0 No comment PEX16 99.97 0 No comment PEX2 100.00 0 No comment PEX7 95.60 0 No comment PHYH 99.81 0 No comment PIK3R5 100.00 0 No comment PLA2G6 100.00 0 No comment PLEKHG4 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PMPCA 100.00 0 No comment PNKD 99.93 0 No comment PNKP 99.84 0 No comment PNPLA6 99.95 0 No comment POLG 100.00 0 No comment POLH 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment PPP2R2B 100.00 0 No comment PRICKLE1 100.00 0 No comment PRKCG 100.00 0 No comment PRNP 99.92 0 No comment PRPS1 99.91 0 No comment PRRT2 100.00 0 No comment PTEN 99.45 0 No comment PUM1 100.00 0 No comment RAB18 99.99 0 No comment RAB3A 100.00 0 No comment RAB3GAP1 100.00 0 No comment RARS2 100.00 0 No comment RELN 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2C 100.00 0 No comment RNF170 100.00 0 No comment RNF216 100.00 0 No comment RPGRIP1L 96.40 0 No comment RRM2B 100.00 0 No comment SACS 99.95 0 No comment SAMD9L 100.00 0 No comment SAMHD1 100.00 0 No comment SAR1B 100.00 0 No comment SCN8A 100.00 0 No comment SEC16A 99.98 0 No comment SEPSECS 99.57 0 No comment SERAC1 100.00 0 No comment SETX 100.00 0 No comment SIL1 99.95 0 No comment SKOR1 98.57 0 No comment SLC16A2 99.97 0 No comment SLC17A5 100.00 0 No comment SLC19A3 99.90 0 No comment SLC1A3 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A46 100.00 0 No comment SLC2A1 100.00 0 No comment SLC39A8 98.92 0 No comment SLC52A2 100.00 0 No comment SLC52A3 99.86 0 No comment SLC9A1 100.00 0 No comment SLC9A6 99.66 0 No comment SMPD1 100.00 0 No comment SNX14 99.98 0 No comment SPAST 99.83 0 No comment SPG11 100.00 0 No comment SPG7 95.78 0 No comment SPR 99.98 0 No comment SPTBN2 99.93 0 No comment SRD5A3 98.61 0 No comment STUB1 99.69 0 No comment SYNE1 100.00 0 No comment SYT14 92.28 0 No comment TANGO2 99.94 0 No comment TBC1D20 95.06 0 No comment TBCC 100.00 0 No comment TBP 100.00 0 No comment TCTN1 100.00 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TDP1 100.00 0 No comment TDP2 100.00 0 No comment TGM6 100.00 0 No comment TK2 100.00 0 No comment TMEM138 100.00 0 No comment TMEM216 99.87 0 No comment TMEM231 100.00 0 No comment TMEM237 99.85 0 No comment TMEM240 96.75 0 No comment TMEM67 99.95 0 No comment ACD 99.99 0 No comment TRIM32 100.00 0 No comment TRPC3 99.48 0 No comment TSEN2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 91.60 0 No comment TSFM 100.00 0 No comment TTBK2 100.00 0 No comment TTC19 100.00 0 No comment TTC8 99.73 0 No comment TTPA 96.80 0 No comment TUBB4A 100.00 0 No comment TUBG1 100.00 0 No comment TYMP 100.00 0 No comment UBA5 100.00 0 No comment VAMP1 100.00 0 No comment VLDLR 96.00 0 No comment VPS13A 100.00 0 No comment VPS13B 100.00 0 No comment VPS13D 100.00 0 No comment VRK1 100.00 0 No comment VWA3B 100.00 0 No comment WDPCP 99.11 0 No comment WDR73 100.00 0 No comment WDR81 99.63 0 No comment WFS1 100.00 0 No comment WWOX 100.00 0 No comment XPA 98.10 0 No comment XPC 100.00 0 No comment XPR1 99.91 0 No comment XRCC1 99.95 0 No comment ZC4H2 100.00 0 No comment ZFYVE26 100.00 0 No comment ZNF423 100.00 0 No comment ZNF592 100.00 0 No comment -
Hearing loss (deafness) (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD12 99.11 1 ACTG1 100.00 1 ADCY1 98.44 1 ADGRV1 99.88 1 AIFM1 99.43 1 ATOH1 100.00 1 ATP11A 99.99 1 ATP2B2 99.96 1 ATP6V0A4 99.83 1 ATP6V1B1 99.92 1 ATP6V1B2 99.91 1 BDP1 99.89 1 BSND 100.00 1 CABP2 99.99 1 CACNA1D 99.94 1 CCDC50 99.92 1 CD164 99.92 1 CDC14A 99.95 1 CDH23 99.95 1 CEACAM16 99.92 1 CEP250 99.98 1 CEP78 99.83 1 CHD7 99.96 1 CIB2 99.99 1 CISD2 99.95 1 CLDN14 100.00 1 CLIC5 99.98 1 CLPP 100.00 1 CLRN1 99.97 1 COCH 99.90 1 COL11A1 99.89 1 COL11A2 99.35 1 COL2A1 100.00 1 COL4A3 99.94 1 COL4A4 99.96 1 COL4A5 99.18 1 COL4A6 99.37 1 COL9A1 99.98 1 COL9A2 99.95 1 COL9A3 99.86 1 CRYL1 99.89 1 CRYM 99.91 1 DCDC2 99.93 1 DIABLO 99.98 1 DIAPH1 97.50 1 DIAPH3 99.86 1 DMXL2 99.40 1 DNAAF10 99.97 1 EDN3 100.00 1 EDNRB 99.94 1 ELMOD3 100.00 1 EPHA10 97.51 1 EPS8 99.87 1 EPS8L2 99.87 1 ERAL1 99.97 1 ESPN 96.05 1 ESRP1 99.81 1 ESRRB 100.00 1 EYA1 99.93 1 EYA4 99.98 1 FDXR 99.98 1 FGF3 98.11 1 FOXI1 100.00 1 GATA3 99.89 1 GIPC3 97.45 1 GJB2 100.00 1 GJB3 100.00 1 GJB6 100.00 1 GPSM2 99.94 1 GRHL2 99.95 1 GRXCR1 100.00 1 GRXCR2 99.91 1 GSDME 99.97 1 HARS1 99.99 1 HARS2 99.51 1 HECTD3 99.39 1 HGF 99.96 1 HOMER2 99.74 1 HOXA2 99.93 1 HSD17B4 99.80 1 IFNLR1 99.52 1 ILDR1 99.95 1 KARS1 99.91 1 KCNE1 100.00 1 KCNJ10 100.00 1 KCNQ1 99.87 1 KCNQ4 99.49 1 KITLG 99.87 1 LARS2 99.99 1 LHFPL5 99.99 1 LMX1A 100.00 1 LOXHD1 99.73 1 LRTOMT 99.99 1 MARVELD2 99.96 1 MCM2 99.96 1 MET 99.97 1 MIR96 100.00 1 MITF 99.97 1 MPZL2 99.96 1 MSRB3 99.96 1 MTAP 98.96 1 MYH14 99.79 1 MYH9 100.00 1 MYO15A 99.59 1 MYO3A 99.84 1 MYO6 99.77 1 MYO7A 99.99 1 NARS2 99.94 1 NDP 99.95 1 NLRP3 99.90 1 OSBPL2 100.00 1 OTOA 99.83 1 OTOF 99.95 1 OTOG 99.99 1 OTOGL 99.63 1 P2RX2 99.91 1 PAX3 99.98 1 PCDH15 99.94 1 PDE1C 99.92 1 PDZD7 99.82 1 PI4KB 99.55 1 PJVK 99.79 1 PLS1 99.80 1 PNPT1 99.86 1 POLR1B 99.95 1 POLR1C 97.52 1 POLR1D 99.72 1 POU3F4 99.94 1 POU4F3 100.00 1 PPIP5K2 99.83 1 PRPS1 99.79 1 PTPRQ 99.83 1 RDX 99.80 1 REST 99.96 1 RIPOR2 99.96 1 ROR1 98.58 1 S1PR2 100.00 1 SALL1 99.99 1 SEMA3E 99.97 1 SERPINB6 98.21 1 SIX1 100.00 1 SIX5 99.87 1 SLC12A2 98.96 1 SLC17A8 99.95 1 SLC22A4 99.96 1 SLC26A4 99.95 1 SLC26A5 99.95 1 SLC4A11 99.99 1 SLC7A8 99.99 1 SLITRK6 100.00 1 SMPX 99.37 1 SNAI2 99.98 1 SOX10 100.00 1 SPATC1L 100.00 1 SSBP1 99.99 1 STRC 99.73 1 SYNE4 100.00 1 TBC1D24 99.97 1 TCOF1 99.96 1 TECTA 99.97 1 THRAP3 99.89 1 TIMM8A 99.78 1 TJP2 99.94 1 TMC1 99.83 1 TMEM132E 99.75 1 TMIE 99.95 1 TMPRSS3 99.95 1 TMTC2 99.96 1 TNC 99.97 1 TPRN 90.56 1 TRIOBP 99.09 1 TSPEAR 99.97 1 TWNK 100.00 1 USH1C 98.72 1 USH1G 99.96 1 USH2A 99.95 1 USP48 99.80 1 WBP2 99.86 1 WFS1 100.00 1 WHRN 99.69 1