Belgian Genetic Tests database- Analytes
- NEBL
NEBL
| Name: |
nebulette
|
| Symbol: |
NEBL
|
| Version of Orphanet: |
2023-06-22 14:14:43
|
| Synonyms: |
LASP2
LIM and SH3 protein 2
LIM-nebulette
LNEBL
bA165O3.1
|
| XREF(s): | |
| Created: |
13 May 2019 - 01:01
|
| Changed: |
22 Jun 2023 - 16:14
|
- Cardiomyopathy, hereditary (gene panel)
- Cardiomyopathy: hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular non-compaction cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy (gene panel)
- Dilated Cardiomyopathy (Gene panel)
- Endocrine Disorders - Hyper(Hypo)parathyroidism (gene panel - 24 genes)
- Heart / Cardio disorders / Cardiopathy (gene panel)
-
Cardiomyopathy (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 100.00 0 ACTC1 100.00 0 ACTN2 100.00 0 ANKRD1 100.00 0 BAG3 100.00 0 CAV3 100.00 0 CRYAB 100.00 0 CSRP3 100.00 0 CTNNA3 100.00 0 DES 100.00 0 DSC2 100.00 0 DSG2 100.00 0 DSP 100.00 0 EMD 100.00 0 FHL1 100.00 0 GLA 100.00 0 JUP 100.00 0 LAMA4 100.00 0 LAMP2 100.00 0 LDB3 100.00 0 LMNA 100.00 0 MIB1 100.00 0 MYBPC3 100.00 0 MYH6 98.00 0 MYH7 100.00 0 MYL2 100.00 0 NEXN 100.00 0 PKP2 100.00 0 PLN 100.00 0 PRDM16 100.00 0 PRKAG2 100.00 0 RBM20 100.00 0 SCN5A 100.00 0 SGCD 99.00 0 TAFAZZIN 100.00 0 TCAP 100.00 0 TGFB3 100.00 0 TMEM43 100.00 0 TNNC1 100.00 0 TNNI3 100.00 0 TNNT2 100.00 0 TPM1 100.00 0 TTN 100.00 0 TTR 100.00 0 VCL 100.00 0 RYR2 100.00 0 FLNC 100.00 0 FHL2 100.00 0 NEBL 100.00 0 RAF1 100.00 0 SDHA 100.00 0 SYNE1 100.00 0 CALR3 100.00 0 JPH2 100.00 0 ALPK3 100.00 0 MYL3 100.00 0 MYOZ2 100.00 0 MYPN 100.00 0 PPA2 100.00 0 CALR3 100.00 0 CDH2 100.00 0 DOLK 100.00 0 JPH2 100.00 0 MYL3 100.00 0 MYLK3 100.00 0 MYOZ2 100.00 0 NRAP 100.00 0 RPL3L 100.00 0 TNNI3K 100.00 0 -
Cardiomyopathy, hereditary (208 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 100.00 0 No comment ACAD9 100.00 0 No comment ACADVL 98.89 0 No comment ACE 97.11 0 No comment ACTA1 100.00 0 No comment ACTC1 100.00 0 No comment ACTN2 100.00 0 No comment ADD3 100.00 0 No comment ADRB2 100.00 0 No comment AGXT 100.00 0 No comment AGTR1 100.00 0 No comment AKAP9 100.00 0 No comment ALPK3 98.02 0 No comment ANKRD1 100.00 0 No comment APOA1 99.97 0 No comment B2M 100.00 0 No comment BAG3 100.00 0 No comment BRAF 96.97 0 No comment CACNA1C 100.00 0 No comment CACNB2 100.00 0 No comment CALM1 100.00 0 No comment CALM2 100.00 0 No comment CALM3 99.99 0 No comment CALR3 100.00 0 No comment CASQ2 100.00 0 No comment CASZ1 95.56 0 No comment CAV3 100.00 0 No comment CAVIN4 100.00 0 No comment CBL 100.00 0 No comment CDH2 97.48 0 No comment CHRM2 100.00 0 No comment CMYA5 99.99 0 No comment CNBP 100.00 0 No comment COA5 100.00 0 No comment COA6 100.00 0 No comment COX10 100.00 0 No comment COX15 100.00 0 No comment CRYAB 100.00 0 No comment CSRP3 100.00 0 No comment CTF1 30.96 0 No comment CTNNA3 100.00 0 No comment DES 100.00 0 No comment DLG1 100.00 0 No comment DMD 100.00 0 No comment DNAJC19 100.00 0 No comment DNM1L 100.00 0 No comment DOLK 100.00 0 No comment DSC3 98.44 0 No comment DSG2 99.61 0 No comment DSP 100.00 0 No comment DTNA 100.00 0 No comment ECRG4 99.32 0 No comment ELAC2 99.99 0 No comment ELN 100.00 0 No comment EMD 99.84 0 No comment EYA4 100.00 0 No comment FBXO32 100.00 0 No comment CFH 100.00 0 No comment FHL2 100.00 0 No comment FHOD3 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNC 100.00 0 No comment FLT1 99.53 0 No comment FOXD4 100.00 0 No comment FXN 89.89 0 No comment GAA 100.00 0 No comment GATA4 80.69 0 No comment GATA5 97.28 0 No comment GATA6 81.11 0 No comment GATAD1 88.18 0 No comment GLA 100.00 0 No comment GTPBP3 100.00 0 No comment HACD1 95.46 0 No comment HADHB 100.00 0 No comment HAND1 100.00 0 No comment HCN4 92.35 0 No comment HIF1A 100.00 0 No comment HRAS 100.00 0 No comment HSPB6 99.65 0 No comment HSPB7 100.00 0 No comment ILK 100.00 0 No comment INS-IGF2 99.94 0 No comment ISL1 100.00 0 No comment JPH2 95.10 0 No comment JUP 100.00 0 No comment KARS1 100.00 0 No comment KAT2B 94.80 0 No comment KCND2 100.00 0 No comment KCNE1 100.00 0 No comment KCNH2 94.44 0 No comment KCNJ12 100.00 0 No comment KCNQ1 91.07 0 No comment KIF20A 100.00 0 No comment KLF10 100.00 0 No comment LAMA2 100.00 0 No comment LAMA4 100.00 0 No comment LAMP2 100.00 0 No comment LDB3 100.00 0 No comment LMNA 99.93 0 No comment LRRC10 100.00 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MIB1 100.00 0 No comment MIB2 99.31 0 No comment MRPL3 100.00 0 No comment MRPL44 100.00 0 No comment MTO1 95.75 0 No comment MYBPC3 100.00 0 No comment MYH15 100.00 0 No comment MYH6 100.00 0 No comment MYH7 100.00 0 No comment MYH7B 99.96 0 No comment MYL2 100.00 0 No comment MYL3 100.00 0 No comment MYLK2 100.00 0 No comment MYO6 100.00 0 No comment MYOM1 100.00 0 No comment MYOM3 100.00 0 No comment MYOZ1 100.00 0 No comment MYOZ2 100.00 0 No comment MYPN 100.00 0 No comment NAA10 96.03 0 No comment NCOA6 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFV2 100.00 0 No comment NEB 99.99 0 No comment NEBL 100.00 0 No comment NEXN 100.00 0 No comment NKX2-5 100.00 0 No comment NPPA 100.00 0 No comment NRAP 100.00 0 No comment OBSCN 99.26 0 No comment OBSL1 98.31 0 No comment MED12 100.00 0 No comment PDLIM3 100.00 0 No comment PKP2 99.87 0 No comment PLEC 99.82 0 No comment PLEKHM2 99.60 0 No comment PLN 100.00 0 No comment PPCS 100.00 0 No comment PRDM16 100.00 0 No comment PRKAG2 95.88 0 No comment PRNP 100.00 0 No comment PSEN1 100.00 0 No comment PSEN2 100.00 0 No comment PTEN 98.86 0 No comment PTPN11 98.80 0 No comment RAF1 100.00 0 No comment RANGRF 100.00 0 No comment RBM20 99.82 0 No comment RIT1 100.00 0 No comment RPSA 97.87 0 No comment RRAGC 99.99 0 No comment RTKN2 100.00 0 No comment RYR2 100.00 0 No comment S100A1 100.00 0 No comment SCN4B 100.00 0 No comment SCN5A 100.00 0 No comment SDHA 98.02 0 No comment SGCB 94.58 0 No comment SGCD 100.00 0 No comment SGCG 100.00 0 No comment SGK1 99.99 0 No comment SHOC2 100.00 0 No comment SLC12A1 100.00 0 No comment SLC22A5 100.00 0 No comment SLC25A3 100.00 0 No comment SLC25A4 99.09 0 No comment SMC1A 100.00 0 No comment SNTA1 84.25 0 No comment SOD2 100.00 0 No comment SOS1 100.00 0 No comment SYNE1 100.00 0 No comment SYNE2 100.00 0 No comment SYNM 92.59 0 No comment TAF1A 100.00 0 No comment TAX1BP3 100.00 0 No comment WWTR1 99.81 0 No comment TBX20 100.00 0 No comment TBX5 100.00 0 No comment TCAP 100.00 0 No comment TCF21 100.00 0 No comment TGFB3 100.00 0 No comment TJP1 99.14 0 No comment TK2 95.90 0 No comment TMED4 100.00 0 No comment TMEM43 100.00 0 No comment TMEM87B 99.37 0 No comment TMPO 99.87 0 No comment TNNI3 100.00 0 No comment TNNI3K 100.00 0 No comment TNNT2 100.00 0 No comment TNNT3 100.00 0 No comment TPM1 99.98 0 No comment TRIM54 99.66 0 No comment TRIM55 100.00 0 No comment TRIM63 100.00 0 No comment TRPM4 100.00 0 No comment TSFM 93.22 0 No comment TTN 100.00 0 No comment TTR 100.00 0 No comment TXNRD2 96.90 0 No comment VCL 100.00 0 No comment VEGFA 98.73 0 No comment YWHAE 98.69 0 No comment ZBTB17 100.00 0 No comment -
Dilated Cardiomyopathy (79 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 100.00 1 NM_020297.3 ACTC1 100.00 1 NM_005159.5 ACTN2 100.00 1 NM_001103.3 ANK2 100.00 1 NM_001148.6 ANKRD1 100.00 1 NM_014391.2 BAG3 100.00 1 NM_004281.4 CASQ2 100.00 1 NM_001232.3 CAV3 100.00 1 NM_033337.3 CDH2 100.00 1 NM_001792.5 CRYAB 100.00 1 NM_001289808.2 CSRP3 100.00 1 NM_003476.5 CTF1 100.00 1 NM_001330.3 DES 100.00 1 NM_001927.4 DMD 100.00 1 NM_004006.2 DOLK 100.00 1 NM_014908.4 DSC2 100.00 1 NM_024422.6 DSG2 100.00 1 NM_001943.5 DSP 100.00 1 NM_004415.4 DTNA 100.00 1 NM_001198938.2 EMD 100.00 1 NM_000117.3 EYA4 100.00 1 NM_004100.5 FHL1 100.00 1 NM_001159699.2 FHL2 100.00 1 NM_201555.2 FHOD3 100.00 1 NM_001281740.3 FKRP 100.00 1 NM_024301.5 FKTN 100.00 1 NM_006731.2 FLII 100.00 1 NM_002018.4 FLNC 100.00 1 NM_001458.4 GATA6 100.00 1 NM_005257.5 GATAD1 100.00 1 NM_021167.5 GLA 100.00 1 NM_000169.3 ILK 100.00 1 NM_004517.4 JPH2 100.00 1 NM_020433.5 JUP 100.00 1 NM_002230.4 LAMA4 100.00 1 NM_001105206.3 LAMP2 100.00 1 NM_002294.3 LDB3 100.00 1 NM_001171610.2 LMNA 100.00 1 NM_170707.4 MIB1 100.00 1 NM_020774.3 MYBPC3 100.00 1 NM_000256.3 MYH6 100.00 1 NM_002471.3 MYH7 100.00 1 NM_000257.4 MYL2 100.00 1 NM_000432.4 MYL3 100.00 1 NM_000258.3 MYLK2 100.00 1 NM_033118.4 MYLK3 100.00 1 NM_182493.3 MYOZ2 100.00 1 NM_016599.5 MYPN 100.00 1 NM_032578.3 NEBL 100.00 1 NM_006393.2 NEXN 100.00 1 NM_144573.3 NKX2-5 100.00 1 NM_004387.4 NRAP 100.00 1 NM_198060.4 OBSCN 100.00 1 NM_001271223.2 PKP2 100.00 1 NM_001005242.3 PLEKHM2 100.00 1 NM_015164.4 PLN 100.00 1 NM_002667.5 PRDM16 100.00 1 NM_022114.4 PRKAG2 100.00 1 NM_016203.4 PSEN2 100.00 1 NM_000447.3 RAF1 100.00 1 NM_001354689.3 RBM20 100.00 1 NM_001134363.3 RPL3L 100.00 1 NM_005061.3 RYR2 100.00 1 NM_001035.3 SCN5A 100.00 1 NM_000335.5 SGCD 100.00 1 XM_017009724.1 SPEG 100.00 1 NM_005876.5 TBX20 100.00 1 NM_001077653.2 TBX5 100.00 1 NM_181486.4 TCAP 100.00 1 NM_003673.4 TMEM43 100.00 1 NM_024334.3 TNNC1 100.00 1 NM_003280.3 TNNI3 100.00 1 NM_000363.5 TNNI3K 100.00 1 NM_015978.3 TNNT2 100.00 1 NM_001276345.2 TPM1 100.00 1 NM_001018005.2 TTN 99.52 1 NM_001267550.2 TTR 100.00 1 NM_000371.4 VCL 100.00 1 NM_014000.3 TAFAZZIN 100.00 1 NM_000116.5 -
Endocrine Disorders - Hyper(Hypo)parathyroidism (24 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AIRE 0.00 0 , AP2S1 0.00 0 , CASR 0.00 0 , CDC73 0.00 0 , CDKN1A 0.00 0 , CDKN1B 0.00 0 , CDKN2B 0.00 0 , CDKN2C 0.00 0 , CHD7 0.00 0 , FAM111A 0.00 0 , GATA3 0.00 0 , GCM2 0.00 0 , GNA11 0.00 0 , MEN1 0.00 0 , NEBL 0.00 0 , PTH 0.00 0 , PTH1R 0.00 0 , RET 0.00 0 , SEMA3E 0.00 0 , SOX3 0.00 0 , STX16 0.00 0 , TBCE 0.00 0 , TBX1 0.00 0 , TRPV6 0.00 0 , -
cardiopathy panel - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 99.92 1 ACADVL 100.00 1 ACTA2 99.99 1 ACTC1 98.57 1 ACTN2 99.99 1 AGL 97.67 1 AKAP10 99.85 1 AKAP9 99.27 1 ALG10 100.00 1 ANK2 99.98 1 ANKRD1 99.57 1 ATP5F1E 100.00 1 BAG3 100.00 1 BRAF 99.78 1 CACNA1C 100.00 1 CACNA2D1 97.12 1 CACNB2 99.93 1 CALM1 99.86 1 CALM2 99.62 1 CALR3 99.91 1 CASQ2 94.39 1 CAV3 100.00 1 CBL 99.95 1 CFC1 21.93 1 CITED2 100.00 1 COA5 98.65 1 CRELD1 99.99 1 CRYAB 100.00 1 CSRP3 100.00 1 CTF1 100.00 1 CTNNA1 99.98 1 CTNNA3 99.96 1 DCHS1 100.00 1 DES 100.00 1 DMD 99.76 1 DMPK 99.93 1 DNM1L 99.40 1 DOLK 100.00 1 DPP6 99.99 1 DSC3 99.73 1 DSG2 99.96 1 DSP 100.00 1 DTNA 100.00 1 ELN 99.86 1 EMD 99.93 1 EYA4 99.96 1 FBN1 99.85 1 FBXO32 99.99 1 CFH 99.97 1 FHL2 100.00 1 FKRP 100.00 1 FKTN 99.94 1 FLNC 99.99 1 FOXRED1 100.00 1 FXN 99.96 1 GAA 100.00 1 GATA4 99.99 1 GATA5 100.00 1 GATA6 99.90 1 GATAD1 99.79 1 GDF1 100.00 1 GJA1 100.00 1 GJA5 100.00 1 GLA 99.90 1 GLB1 100.00 1 GPD1L 99.97 1 GUSB 95.07 1 HAND1 99.99 1 HCN4 100.00 1 HFE 100.00 1 HRAS 100.00 1 ILK 100.00 1 JAG1 100.00 1 JPH2 99.99 1 JUP 99.94 1 KCNA5 100.00 1 KCND3 99.98 1 KCNE1 87.07 1 KCNE2 99.99 1 KCNE3 100.00 1 KCNE5 99.97 1 KCNH2 99.99 1 KCNJ2 100.00 1 KCNJ5 99.99 1 KCNJ8 100.00 1 KCNQ1 100.00 1 KRAS 99.13 1 LAMA4 99.93 1 LAMP2 98.95 1 LDB3 99.91 1 LMNA 99.96 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MED13L 99.99 1 MIB1 99.91 1 MRPL3 99.94 1 MYBPC3 99.98 1 MYH6 100.00 1 MYH7 99.99 1 MYL2 99.99 1 MYL3 99.99 1 MYLK2 100.00 1 MYOM1 99.98 1 MYOZ1 99.93 1 MYOZ2 99.99 1 MYPN 99.88 1 NEBL 99.86 1 NEXN 97.73 1 NKX2-5 99.75 1 NKX2-6 100.00 1 NOS1AP 99.91 1 NPPA 100.00 1 NRAS 99.66 1 PDLIM3 99.94 1 PKP2 94.27 1 PLN 99.97 1 PRKAG2 99.96 1 PSEN1 100.00 1 PSEN2 99.97 1 PTPN11 99.98 1 RAF1 99.97 1 RANGRF 100.00 1 RBM20 99.99 1 RYR2 99.94 1 SCN1B 99.98 1 SCN2B 100.00 1 SCN3B 100.00 1 SCN4B 100.00 1 SCN5A 100.00 1 SCO2 100.00 1 SDHA 99.98 1 SGCD 100.00 1 SHOC2 99.96 1 SLC25A3 99.79 1 SLMAP 99.55 1 SMAD3 99.99 1 SNTA1 99.99 1 SOD2 99.98 1 SOS1 99.68 1 SPRED1 99.99 1 SYNE1 99.95 1 SYNE2 99.95 1 TAFAZZIN 99.98 1 TBX1 99.95 1 TBX20 99.99 1 TCAP 100.00 1 TGFB2 99.87 1 TGFB3 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TLL1 99.94 1 TMEM43 99.96 1 TMEM70 99.99 1 TMPO 99.81 1 TNNI3 100.00 1 TNNT2 99.87 1 TPM1 99.92 1 TRDN 99.80 1 TRIM63 99.96 1 TRPM4 99.99 1 TSFM 100.00 1 TTN 99.15 1 TTR 100.00 1 TXNRD2 99.97 1 VCL 99.76 1 XK 99.98 1 ZFPM2 100.00 1