- Analytes
- ANKRD1
ANKRD1
Name: |
ankyrin repeat domain 1
|
Symbol: |
ANKRD1
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
ALRP
C-193
CARP
CVARP
MCARP
|
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)
- Cardiopathies, hereditary (gene panel)
- Congenital structural heart defects (gene panel)
- Dilated Cardiomyopathy (Gene panel)
- Heart / Cardio disorders / Cardiopathy (gene panel)
- Hypertrophic cardiomyopathy (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 -
Cardiopathies, hereditary (102 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 95.00 0 NM_005691.4 / interpretable range CS1>95% ACTC1 95.00 0 NM_005159.5 / interpretable range CS1>95% ACTN2 95.00 0 NM_001103.4 / nterpretable range CS1>95% AKAP9 95.00 0 NM_005751.5 /interpretable range CS1>95% ANK2 95.00 0 NM_001148.6 / interpretable range CS1>95% ANKRD1 95.00 0 NM_014391.3 / interpretable range CS1>95% BAG3 95.00 0 NM_004281.4 / interpretable range CS1>95% CACNA1C 95.00 0 NM_000719.7 / interpretable range CS1>95% CACNA1D 95.00 0 NM_000720.4 / interpretable range CS1>95% CACNA2D1 95.00 0 NM_000722.4 / interpretable range CS1>95% CACNB2 95.00 0 NM_201590.3 / interpretable range CS1>95% CALM1 95.00 0 NM_006888.6 / interpretable range CS1>95% CALM2 95.00 0 NM_001743.6 / interpretable range CS1>95% CALM3 95.00 0 NM_005184.4 / interpretable range CS1>95% CALR3 95.00 0 NM_145046.5 / interpretable range CS1>95% CASQ2 95.00 0 NM_001232.4 / interpretable range CS1>95% CAV3 95.00 0 NM_033337.3 / interpretable range CS1>95% CDH2 95.00 0 NM_001792.5 / interpretable range CS1>95% CRYAB 95.00 0 NM_001885.3 / interpretable range CS1>95% CSRP3 95.00 0 NM_003476.5 / interpretable range CS1>95% CTNNA3 95.00 0 NM_013266.4 / interpretable range CS1>95% DES 95.00 0 NM_001927.4 / interpretable range CS1>95% DSC3 95.00 0 NM_024422.6 / interpretable range CS1>95% DSG2 95.00 0 NM_001943.5 / interpretable range CS1>95% DSP 95.00 0 NM_004415.4 / interpretable range CS1>95% DTNA 95.00 0 NM_001390.4 / interpretable range CS1>95% CFH 95.00 0 NM_001449.5 / interpretable range CS1>95% FHOD3 95.00 0 NM_025135.5 / interpretable range CS1>95% FKTN 95.00 0 NM_001079802.2 / interpretable range CS1>95% FLNC 95.00 0 NM_001458.5 / interpretable range CS1>95% GJA5 95.00 0 NM_005266.7 / interpretable range CS1>95% GLA 95.00 0 NM_000169.3 / interpretable range CS1>95% GPD1L 95.00 0 NM_015141.4 / interpretable range CS1>95% HCN4 95.00 0 NM_005477.3 / interpretable range CS1>95% JPH2 95.00 0 NM_020433.5 / interpretable range CS1>95% JUP 95.00 0 NM_002230.4 / interpretable range CS1>95% KCNA5 95.00 0 NM_002234.4 / interpretable range CS1>95% KCND2 95.00 0 NM_012281.3 / interpretable range CS1>95% KCND3 95.00 0 NM_004980.5 / interpretable range CS1>95% KCNE1 95.00 0 NM_000219.6 / interpretable range CS1>95% KCNE2 95.00 0 NM_172201.2 / interpretable range CS1>95% KCNE3 95.00 0 NM_005472.5 / interpretable range CS1>95% KCNE5 95.00 0 NM_012282.4 / interpretable range CS1>95% KCNH2 95.00 0 NM_000238.4 / interpretable range CS1>95% KCNJ2 95.00 0 NM_000891.3 / interpretable range CS1>95% KCNJ5 95.00 0 NM_000890.5 / interpretable range CS1>95% KCNJ8 95.00 0 NM_004982.4 / interpretable range CS1>95% KCNQ1 95.00 0 NM_000218.3 / interpretable range CS1>95% LAMA4 95.00 0 NM_002290.5 / interpretable range CS1>95% LAMP2 95.00 0 NM_002294.3 / interpretable range CS1>95% LDB3 95.00 0 NM_001080116.1 / interpretable range CS1>95% LMNA 95.00 0 NM_170707.4 / interpretable range CS1>95% MIB1 95.00 0 NM_020774.4 / interpretable range CS1>95% MYBPC3 95.00 0 NM_000256.3 / interpretable range CS1>95% / MLPA only in de frame of "Familial hypertrophic cardiomyopathy" MYH6 95.00 0 NM_002471.4 / interpretable range CS1>95% MYH7 95.00 0 NM_000257.4 / interpretable range CS1>95% MYL2 95.00 0 NM_000432.4 / interpretable range CS1>95% MYL3 95.00 0 NM_000258.3 / interpretable range CS1>95% MYLK2 95.00 0 NM_033118.4 / interpretable range CS1>95% MYOZ2 95.00 0 NM_016599.5 / interpretable range CS1>95% MYPN 95.00 0 NM_032578.4 / interpretable range CS1>95% NEXN 95.00 0 NM_144573.4 / interpretable range CS1>95% NKX2-5 95.00 0 NM_004387.4 / interpretable range CS1>95% NOS1AP 95.00 0 NM_014697.3 / interpretable range CS1>95% NPPA 95.00 0 NM_006172.4 / interpretable range CS1>95% NUP155 95.00 0 NM_153485.3 / interpretable range CS1>95% PITX2 95.00 0 NM_153427.2 / interpretable range CS1>95% PKP2 95.00 0 NM_004572.4 / interpretable range CS1>95% PLN 95.00 0 NM_002667.5 / interpretable range CS1>95% PRKAG2 95.00 0 NM_016203.4 / interpretable range CS1>95% RBM20 95.00 0 NM_001134363.3 / interpretable range CS1>95% RYR2 95.00 0 NM_001035.3 / interpretable range CS1>95% SLC4A3 95.00 0 NM_201574.2 / interpretable range CS1>95% SCN10A 95.00 0 NM_006514.4 / interpretable range CS1>95% SCN1B 95.00 0 NM_001037.5 / interpretable range CS1>95% SCN2B 95.00 0 NM_004588.5 / interpretable range CS1>95% SCN3B 95.00 0 NM_018400.4 / interpretable range CS1>95% SCN4B 95.00 0 NM_174934.4 / interpretable range CS1>95% SCN5A 95.00 0 NM_198056.3 / interpretable range CS1>95% SEMA3A 95.00 0 NM_006080.3 / interpretable range CS1>95% SGCD 95.00 0 NM_000337.6 / interpretable range CS1>95% SNTA1 95.00 0 NM_003098.3 / interpretable range CS1>95% WWTR1 95.00 0 NM_000116.5 / interpretable range CS1>95% TBX20 95.00 0 NM_001077653.2 / interpretable range CS1>95% TCAP 95.00 0 NM_003673.4 / interpretable range CS1>95% TECRL 95.00 0 NM_001010874.5 / interpretable range CS1>95% TGFB3 95.00 0 NM_003239.5 / interpretable range CS1>95% TJP1 95.00 0 NM_003257.5 / interpretable range CS1>95% TMEM43 95.00 0 NM_024334.3 / interpretable range CS1>95% TMPO 95.00 0 NM_003276.2 / interpretable range CS1>95% TNNI3 95.00 0 NM_000363.5 / interpretable range CS1>95% TNNI3K 95.00 0 NM_015978.3 / interpretable range CS1>95% TNNT2 95.00 0 NM_001001430.3 / interpretable range CS1>95% TPM1 95.00 0 NM_001018005.2 / interpretable range CS1>95% TRDN 95.00 0 NM_006073.4 / interpretable range CS1>95% TRIM63 95.00 0 NM_032588.4 / interpretable range CS1>95% TRPM4 95.00 0 NM_017636.4 / interpretable range CS1>95% TTN 95.00 0 NM_001267550.1 / interpretable range CS1>95% TTR 95.00 0 NM_000371.4 / interpretable range CS1>95% TXNRD2 95.00 0 NM_006440.5 / interpretable range CS1>95% VCL 95.00 0 NM_014000.3 / interpretable range CS1>95% -
Congenital structural heart defects - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AATK 99.98 1 ABL1 100.00 1 ACAN 91.51 1 ACTA1 99.99 1 ACTB 100.00 1 ACTC1 98.57 1 ACTG1 100.00 1 ACTN2 99.99 1 ACVR1 99.94 1 ACVR1B 99.99 1 ACVR2A 99.15 1 ACVR2B 99.99 1 ACVRL1 99.88 1 ADAMTS10 99.99 1 ADNP 100.00 1 AKAP12 100.00 1 AKT1 100.00 1 AKT2 99.85 1 ALDH1A2 99.97 1 ALX3 99.74 1 ANKRD1 99.57 1 ANKRD11 99.85 1 AP1B1 99.99 1 APAF1 98.70 1 AR 99.76 1 ARHGAP31 100.00 1 ARID4A 99.90 1 ATP2A2 99.98 1 ATRX 99.44 1 AXIN1 100.00 1 BCOR 99.97 1 BMP10 99.96 1 BMP2 99.79 1 BMP4 100.00 1 BMP6 100.00 1 BMP7 100.00 1 BMPR1A 99.58 1 BMPR2 99.95 1 BRAF 99.78 1 BRIP1 99.39 1 BVES 99.83 1 CASQ2 94.39 1 CAV1 99.97 1 CAV3 100.00 1 CBL 99.95 1 CCDC103 99.68 1 CCDC39 99.74 1 CCDC40 100.00 1 CCDC65 99.80 1 CCN1 99.99 1 CCNO 100.00 1 CD96 99.91 1 CDK13 99.83 1 CDK4 100.00 1 CDX2 100.00 1 CENPF 99.97 1 CFAP53 99.95 1 CFC1 21.93 1 CHAC2 99.68 1 CHD4 99.99 1 CHD7 99.99 1 CHD8 99.96 1 CITED2 100.00 1 COL1A1 99.90 1 COL1A2 99.34 1 COL2A1 99.87 1 COX7B 99.86 1 CREBBP 99.97 1 CRELD1 99.99 1 CRIP2 99.99 1 CRYAB 100.00 1 CSNK1D 99.99 1 CSRP1 99.75 1 CSRP3 100.00 1 CTNNB1 99.95 1 DDX3X 99.01 1 DES 100.00 1 DIAPH3 99.85 1 DICER1 99.96 1 DLGAP5 99.83 1 DLL1 99.99 1 DLL4 100.00 1 DNAAF1 99.99 1 DNAAF11 99.80 1 DNAAF2 99.91 1 DNAAF3 99.99 1 DNAAF4 99.78 1 DNAAF5 99.99 1 DNAH11 99.93 1 DNAH5 99.98 1 DNAI1 99.92 1 DNAI2 99.86 1 DNAJB13 99.91 1 DNAH9 99.79 1 DRC1 99.93 1 DSCAM 99.99 1 DVL1 100.00 1 DYRK1A 99.98 1 E2F1 99.99 1 ECE1 99.92 1 EDNRA 99.97 1 EFEMP2 99.94 1 EFNB1 99.95 1 EFTUD2 99.93 1 EGFR 99.68 1 EGR1 99.99 1 EHMT1 98.38 1 ELN 99.86 1 ENG 100.00 1 EOGT 99.09 1 EP300 99.97 1 EPHB2 99.86 1 EPHB4 99.82 1 ERBB2 99.98 1 ERCC4 99.92 1 ESR2 99.96 1 ETS1 99.99 1 EVC 99.95 1 EVC2 99.97 1 EWSR1 99.94 1 EZH2 99.89 1 F2R 99.98 1 FABP3 99.87 1 FADD 99.97 1 FANCA 100.00 1 FANCB 99.24 1 FANCC 99.98 1 FANCD2 99.86 1 FANCE 99.99 1 FANCF 100.00 1 FANCG 100.00 1 FANCI 99.96 1 FANCL 99.67 1 FBLN1 98.69 1 FBLN7 99.95 1 FBN1 99.85 1 FBN2 99.90 1 FGF10 99.95 1 FGF8 100.00 1 FGFR1 100.00 1 FGFR2 99.99 1 FGFR3 100.00 1 FHL2 100.00 1 FIBP 99.83 1 FLII 100.00 1 FLNA 99.99 1 FLNC 99.99 1 FLT1 99.99 1 FLT4 97.93 1 FN1 99.95 1 FOXC1 100.00 1 FOXC2 100.00 1 FOXH1 100.00 1 FOXK2 99.76 1 FOXL1 100.00 1 FOXL2 99.97 1 FOXO1 100.00 1 FOXP1 99.98 1 FSCN2 100.00 1 G6PC3 99.98 1 GAS8 100.00 1 GATA2 99.99 1 GATA4 99.99 1 GATA5 100.00 1 GATA6 99.90 1 GATAD2B 99.44 1 GDF1 100.00 1 GDF11 99.97 1 GDF5 100.00 1 GDNF 99.99 1 GJA1 100.00 1 GJA5 100.00 1 GJD2 99.99 1 GLB1 100.00 1 GLI2 99.93 1 GLI3 100.00 1 GPC3 99.60 1 GPC5 99.96 1 GPC6 99.98 1 GRK5 99.97 1 GTF2I 47.18 1 GTF2IRD1 99.77 1 HAND1 99.99 1 HAND2 99.97 1 HDAC8 99.74 1 HES4 100.00 1 HEY2 99.75 1 HIF1A 99.87 1 HMGB2 99.99 1 HNF1A 100.00 1 HNF4A 100.00 1 HOXA1 100.00 1 HOXB2 99.99 1 HRAS 100.00 1 HSPB1 99.97 1 HSPB8 100.00 1 HSPG2 99.87 1 HYDIN 81.28 1 ID2 100.00 1 IGF1R 100.00 1 IGFBP4 99.85 1 IKBKB 99.93 1 ILK 100.00 1 INHBA 99.98 1 INHBC 99.99 1 INPP5D 99.98 1 INSR 99.99 1 IRS1 100.00 1 IRX4 99.99 1 ISL1 99.99 1 ITGAV 99.40 1 ITGB1 99.96 1 ITGB3 99.83 1 ITGB4 99.99 1 JAG1 100.00 1 JAM3 100.00 1 JUN 100.00 1 KANSL1 99.85 1 KAT6A 99.93 1 KAT6B 99.79 1 KDM3B 99.98 1 KDM5A 99.90 1 KDM5B 97.15 1 KDM6A 99.74 1 KDR 99.86 1 KIT 99.86 1 KMT2D 99.98 1 KRAS 99.13 1 KREMEN1 99.88 1 LAMA2 99.95 1 LAMA5 99.99 1 LAMC1 99.55 1 LBR 99.66 1 LEFTY1 99.98 1 LEFTY2 100.00 1 LHX3 99.99 1 LMNA 99.96 1 LMX1B 100.00 1 LRP2 99.86 1 LTBP1 99.95 1 LTBP3 99.96 1 LZTR1 99.46 1 MAFG 100.00 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAPK14 99.95 1 MCTP2 99.99 1 MECOM 99.97 1 MED13L 99.99 1 MEF2C 99.57 1 MEGF8 99.90 1 MESP1 100.00 1 MET 99.97 1 METTL3 99.98 1 MGP 99.95 1 MID1 99.90 1 MITF 99.98 1 MMP2 99.96 1 MMP21 99.99 1 MSX1 100.00 1 MTHFD1 100.00 1 MTHFR 99.97 1 MTRR 99.98 1 MYBPC3 99.98 1 MYC 100.00 1 MYH10 99.91 1 MYH11 99.16 1 MYH6 100.00 1 MYH7 99.99 1 MYH9 99.95 1 MYL2 99.99 1 MYL3 99.99 1 MYL7 99.95 1 MYOCD 99.99 1 MYOM1 99.98 1 MYOZ2 99.99 1 NF1 99.88 1 NFATC1 100.00 1 NFIX 99.99 1 NFKB1 99.80 1 NID2 99.97 1 NIPBL 99.34 1 NKX2-1 100.00 1 NKX2-5 99.75 1 NKX2-6 100.00 1 NME8 99.83 1 NNMT 100.00 1 NODAL 99.98 1 NONO 99.94 1 NOS3 93.73 1 NOTCH1 99.98 1 NOTCH2 99.03 1 NOTCH3 99.99 1 NPHP3 99.89 1 NPHP4 99.98 1 NPPA 100.00 1 NR2F2 100.00 1 NR4A2 99.97 1 NRAS 99.66 1 NRP1 99.99 1 NRP2 99.98 1 NSD1 99.98 1 ODAD1 96.04 1 ODAD2 98.19 1 ODAD3 99.96 1 ODAD4 99.85 1 OTX2 100.00 1 PACS1 99.96 1 PAX3 100.00 1 PCSK5 99.97 1 PDGFC 99.97 1 PDGFRA 99.94 1 PDGFRB 99.99 1 PDHX 100.00 1 PIGA 99.81 1 PIGL 99.98 1 PIGN 99.91 1 PIGT 99.95 1 PITX2 99.98 1 PKD1L1 99.84 1 PLAGL1 99.96 1 PLAT 99.99 1 POU5F1 100.00 1 PPARG 99.96 1 PPARGC1A 99.82 1 PPP3CA 99.84 1 PRKACA 99.95 1 PRKD1 99.96 1 PROX1 99.98 1 PRRX1 99.56 1 PSEN1 100.00 1 PSEN2 99.97 1 PTEN 99.89 1 PTK2 99.97 1 PTP4A3 99.99 1 PTPN11 99.98 1 PUF60 100.00 1 RAB23 99.97 1 RAD21 99.91 1 RAD51C 99.02 1 RAF1 99.97 1 RAI1 99.22 1 RAI2 99.98 1 RARB 99.99 1 RARG 99.98 1 RB1 99.84 1 RBBP7 99.87 1 RBL2 99.44 1 RBM10 99.98 1 RBM8A 99.37 1 RELA 99.99 1 RERE 99.94 1 RET 99.97 1 RGS19 99.88 1 RIT1 99.78 1 RNF20 99.93 1 ROR2 99.99 1 RPGR 94.45 1 RPL11 99.81 1 RPL15 31.77 1 RPL26 30.55 1 RPL35A 97.55 1 RPL5 28.81 1 RPS10 0.00 1 RPS17 100.00 1 RPS19 100.00 1 RPS24 91.48 1 RPS26 8.99 1 RPS28 100.00 1 RPS29 99.96 1 RPS7 88.50 1 RSPH1 99.87 1 RSPH3 99.94 1 RSPH4A 99.95 1 RSPH9 99.99 1 RYR2 99.94 1 SALL1 100.00 1 SALL4 100.00 1 SCN5A 100.00 1 SESN1 99.95 1 SF3B4 99.65 1 SGCA 100.00 1 SH3PXD2B 100.00 1 SHH 100.00 1 SHOC2 99.96 1 HHAT 99.98 1 SLC19A1 99.99 1 SLC25A4 100.00 1 SLC2A10 100.00 1 SLX4 100.00 1 SMAD2 99.92 1 SMAD3 99.99 1 SMAD4 99.97 1 SMAD6 100.00 1 SMARCE1 99.87 1 SMC1A 99.98 1 SMC3 99.91 1 SMG9 99.99 1 SOS1 99.68 1 SOS2 99.39 1 SOX2 100.00 1 SOX4 99.36 1 SP1 99.98 1 SPAG1 99.78 1 SPATC1L 99.99 1 SPECC1L 99.98 1 SRCAP 99.99 1 SRF 99.99 1 STAT3 99.97 1 STRA6 99.95 1 SUZ12 98.58 1 TAB2 99.75 1 TBX1 99.95 1 TBX2 99.97 1 TBX20 99.99 1 TBX3 100.00 1 TBX5 99.98 1 TBX6 99.99 1 TCAP 100.00 1 TCF21 100.00 1 TCF3 100.00 1 TCN2 100.00 1 CRIPTO 99.82 1 TEAD1 99.97 1 TEK 99.98 1 TFAP2A 100.00 1 TFAP2B 99.98 1 TFAP2C 100.00 1 TGFB1 100.00 1 TGFB2 99.87 1 TGFB3 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TGIF1 100.00 1 THBS1 100.00 1 THBS4 100.00 1 THOC5 99.90 1 THRB 99.82 1 DDR2 97.39 1 TLL1 99.94 1 TNFRSF11A 100.00 1 TNFRSF1A 100.00 1 TNNI3 100.00 1 TNNT2 99.87 1 TNR 99.80 1 TP53 99.98 1 TP73 100.00 1 TPM1 99.92 1 TRPM2 99.99 1 TSR2 99.96 1 TTN 99.15 1 TWIST1 100.00 1 UBE2B 99.94 1 UBE2T 99.89 1 USP44 99.86 1 USP9X 99.84 1 VCAN 99.99 1 VDR 99.86 1 VEGFA 99.99 1 VEGFC 99.96 1 WASHC5 99.98 1 WDR5 100.00 1 WNT11 100.00 1 WT1 99.99 1 YY1 100.00 1 ZEB2 99.97 1 ZFHX3 99.96 1 ZFPM2 100.00 1 ZIC3 99.90 1 ZMYND10 99.99 1 -
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 -
Hypertrophic cardiomyopathy (75 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTC1 100.00 1 NM_005159.5 ACTN2 100.00 1 NM_001103.3 ALPK3 100.00 1 NM_020778.5 CSRP3 100.00 1 NM_003476.5 GLA 100.00 1 NM_000169.3 JPH2 100.00 1 NM_020433.5 LAMP2 100.00 1 NM_002294.3 LMNA 100.00 1 NM_170707.4 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 PLN 100.00 1 NM_002667.5 PRKAG2 100.00 1 NM_016203.4 TNNC1 100.00 1 NM_003280.3 TNNI3 100.00 1 NM_000363.5 TNNT2 100.00 1 NM_001276345.2 TPM1 100.00 1 NM_001018005.2 TTR 100.00 1 NM_000371.4 ACADVL 100.00 1 NM_000018.4 ACTA1 100.00 1 NM_001100.4 AGL 100.00 1 NM_000642.3 ANKRD1 100.00 1 NM_014391.2 ATAD3A 100.00 1 NM_001170535.3 ATP5F1E 100.00 1 NM_006886.4 BRAF 100.00 1 NM_001354609.2 CACNA1C 100.00 1 NM_000719.7 CALR3 100.00 1 NM_145046.5 CASQ2 100.00 1 NM_001232.3 CAV3 100.00 1 NM_033337.3 COA5 100.00 1 NM_001008215.3 CRYAB 100.00 1 NM_001289808.2 DES 100.00 1 NM_001927.4 FHL1 100.00 1 NM_001159699.2 FHOD3 100.00 1 NM_001281740.3 FLNC 100.00 1 NM_001458.4 FOXRED1 100.00 1 NM_017547.4 FXN 100.00 1 NM_000144.5 GAA 100.00 1 NM_000152.5 GLB1 100.00 1 NM_000404.4 GUSB 100.00 1 NM_000181.4 GYG1 100.00 1 NM_004130.4 HRAS 100.00 1 NM_005343.4 KCNQ1 100.00 1 NM_000218.3 KLF10 100.00 1 NM_005655.4 LDB3 100.00 1 NM_001171610.2 LZTR1 100.00 1 NM_006767.4 MAP2K1 100.00 1 NM_002755.4 MAP2K2 100.00 1 NM_030662.4 MIB1 100.00 1 NM_020774.3 MRPL3 100.00 1 NM_007208.4 MT-TI 100.00 1 MT-TL1 100.00 1 MYLK2 100.00 1 NM_033118.4 MYO6 100.00 1 NM_004999.4 MYOM1 100.00 1 NM_003803.4 MYOZ2 100.00 1 NM_016599.5 MYPN 100.00 1 NM_032578.3 NEXN 100.00 1 NM_144573.3 NRAS 100.00 1 NM_002524.5 PDLIM3 100.00 1 NM_014476.6 PTPN11 100.00 1 NM_002834.5 RAF1 100.00 1 NM_001354689.3 RYR2 100.00 1 NM_001035.3 SCO2 100.00 1 NM_005138.3 SLC25A3 100.00 1 NM_002635.4 SLC25A4 100.00 1 NM_001151.4 SOS1 100.00 1 NM_005633.3 TCAP 100.00 1 NM_003673.4 TMEM70 100.00 1 NM_017866.6 TRIM63 100.00 1 NM_032588.3 TSFM 100.00 1 NM_005726.6 TTN 100.00 1 NM_001267550.2 VCL 100.00 1 NM_014000.3 -
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