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Redefining genomic knowledg to personalise patient responses
We have expanded our panels by more than 50 genes associated or potentially associated with the development of inherited cardiovascular diseases. After an exhaustive literature review by our Cardiology team, evidence on all genes included has been updated and new genes have been added, so that we can stay at the forefront of genetic diagnosis.
In the new versions of our panels, we have decided to fully sequence relevant genes related to inherited heart disease (MYBPC3, FLNC, DSP, LMNA, BAG3, PKP2, SCN5A) and extend the capture and analysis of intronic regions to +/- 200 bp of others genes (NKX2-5, TGFB3, ALPK3, DSC2, DSG2, EMD, FHL1, GLA, KCNH2, LAMP2, MYBPC3, PLN, TBX20, KCNQ1, PRDM16, DES, MYH7, TRIM63, DMD, RBM20, TTN, FBN1, TGFB2, TGFBR1, TGFBR2). Deep intronic variants in some of these genes have been shown to be clearly associated with the development of the disease, which is why we have decided to extend the capture of the intronic regions of other genes with a similar behavior (loss of function as a disease mechanism).
Cardiology
Key features
368 genes associated with inherited heart disease
Including cardiomyopathies, channelopathies (sudden cardiac death), and aortic diseases. Some of these genes, such as FLNC, FHOD3, TRIM63, and ALPK3, and their association with cardiomyopathies were first described by our cardiology team.
Deep intronic variants in relevant genes
Health in Code Cardiology has shown in published articles that deep intronic variants can alter the splicing process in genes such as FBN1, MYBPC3, and KCNQ1. These data, which are not accessible in studies based on whole-exome sequencing, represent a differential value with respect to other strategies.
- Genes where promoters, UTR, and introns are included: MYBPC3, FLNC, DSP, LMNA, BAG3, PKP2, SCN5A.
- Genes where flanking intronic regions are covered within ±200 bp of the coding region: NKX2-5, TGFB3, ALPK3, DSC2, DSG2, EMD, FHL1, GLA, KCNH2, LAMP2, MYBPC3, PLN, TBX20, KCNQ1, PRDM16, DES, MYH7, TRIM63, DMD, RBM20, TTN, FBN1, TGFB2, TGFBR1, TGFBR2.
Inclusion of variants to calculate Polygenic Risk Scores (PRS)
Screening for different SNPs enables the calculation of different PRSs published in the literature. The PRSs for HCM, DCM, and Brugada syndrome (low heritability) are included in this version. It could also be useful to predict the phenotypic expression and the severity of the disease in certain genetic mutations with variable penetrance. HiC is the first genetic testing company to include PRS as a complementary service to traditional NGS studies.
Sequencing panels
Cardiomyopathy
- Hypertrophic cardiomyopathy (basic panel) [21 genes]
Ref.: S-201906389|Turnaround time (TAT): 25 days
- Hypertrophic cardiomyopathy (extended panel) [140 genes]
Ref.: S-201906390|Turnaround time (TAT): 25 days
- Dilated cardiomyopathy – Non-compaction cardiomyopathy [146 genes]
Ref.: S-201906391|Turnaround time (TAT): 25 days
- Arrhythmogenic cardiomyopathy [31 genes]
Ref.: S-201906392|Turnaround time (TAT): 25 days
- Restrictive cardiomyopathy [22 genes]
Ref.: S-201906393|Turnaround time (TAT): 25 days
Rare diseases with cardiac affectation
- RASopathies (Noonan, LEOPARD, Costello) [27 genes]
Ref.: S-201906395|Turnaround time (TAT): 25 days
- Mitochondrial genome sequencing [37 genes]
Ref.: S-201805389|Turnaround time (TAT): 25 days
- Nuclear mitochondrial genes [400 genes]
Ref.: S-202008652|Turnaround time (TAT): 25 days
- Fabry disease. Sequencing of the GLA gene [1 gene]
Ref.: S-201601169|Turnaround time (TAT): 25 days
- Familial amyloidosis. Sequencing of the TTR gene [1 gen]
Ref.: S-201702765|Turnaround time (TAT): 25 days
Channelopathies and cardiac arrhythmias
- Long QT syndrome (basic panel) [11 genes]
Ref.: S-201906402|Turnaround time (TAT): 25 days
- Long QT syndrome (extended panel) [36 genes]
Ref.: S-201906403|Turnaround time (TAT): 25 days
- Short QT syndrome [9 genes]
Ref.: S-201906401|Turnaround time (TAT): 25 days
- Catecholaminergic polymorphic ventricular tachycardia [11 genes]
Ref.: S-201906405|Turnaround time (TAT): 25 days
- Brugada syndrome / J wave syndrome [28 genes]
Ref.: S-201906404|Turnaround time (TAT): 25 days
- Cardiac conduction disease [54 genes]
Ref.: S-201906449|Turnaround time (TAT): 25 days
- Atrial fibrillation [55 genes]
Ref.: S-201906450|Turnaround time (TAT): 25 days
Aortic, vascular, and connective tissue diseases
- Aortic and vascular disorders [81 genes]
Ref.: S-202313243|Turnaround time (TAT): 25 days
- Ehlers-Danlos syndromes [47 genes]
Ref.: S-201906569|Turnaround time (TAT): 25 days
Congenital cardiopathies and pulmonary hypertension
- Congenital heart diseases [114 genes]
Ref.: S-201601108|Turnaround time (TAT): 25 days
- Pulmonary arterial hypertension [25 genes]
Ref.: S-202007949|Turnaround time (TAT): 25 days
General panels
- Inherited heart diseases [368 genes]
Ref.: S-202313244|Turnaround time (TAT): 25 days
- General panel of cardiomyopathies [227 genes]
Ref.: S-201906396|Turnaround time (TAT): 25 days
- General panel of cardiomyopathies, arrhythmias and sudden death [288 genes]
Ref.: S-201906399|Turnaround time (TAT): 25 days
- General panel of arrhythmias and sudden death without structural cardiopathy [100 genes]
Ref.: S-201906397|Turnaround time (TAT): 25 days
Who we are…
..and what sets us apart
How our panels are organized:
Phenotype-based panel testing: designed specifically for each phenotype, making it easier to request a study.
Priority-system-based gene variant filtering: genes are categorized as priority, secondary, and candidate genes. In terms of clinical diagnosis, the filtering process focuses on priority and secondary genes. Candidate genes are useful for research, possibly leading to new discoveries and treatment options.
Extensive custom library
Information on more than 35,000 probands with different inherited heart diseases sequenced by NGS at Health in Code.
- We use the ACMG classification enriched with in-house generated information.
- Internal count to determine if a variant has been previously detected by NGS and frequency of cases with a specific phenotype and frequency among internal controls, allowing us to calculate enrichment and OR.
Data from thousands of scientific articles curated by the team at Health in Code, with clinical information on more than 180,000 patients suffering from inherited diseases.
Personalized counseling
Information conveyed in the reports is translated into actionable information that is specific to each individual patient.
- Reliable and reproducible pathogenicity criteria are provided for each variant: we explain what criteria we have applied and why.
- Clinical and prognostic information for patient management.
- Information on management and follow-up of relatives.
All of this is always accompanied by personalized counseling from our team.
Our Cardiology Team
Juan Pablo Ochoa, MD, PhD
Director del área de Cardiología
Soledad García, MD
Médico especialista en Cardiología
Ivonne Johana Cárdenas, MD, PhD
Médico especialista en Cardiología
Xusto Fernández, MD
Médico especialista en Cardiología
María Valverde, MD
Médico especialista en Cardiología
Almudena Amor, MD, PhD
Médico especialista en Cardiología
Diego Alonso, MD
Director del área de Ateroesclerosis y Comité Científico de Cardiología
Diego Cabrera, MD
Médico especialista en Cardiología
Iria Gómez
Analista especialista en diagnóstico genético
Rosalía Peteiro
Analista especialista en diagnóstico genético
Marlene Pérez, PhD
Analista especialista en diagnóstico genético
Paula Vélez, PhD
Analista especialista en diagnóstico genético
Laura Cazón
Coordinadora de Diagnóstico Genético
María Sánchez, PhD
Analista técnico de diagnóstico genético
Hypertrophic cardiomyopathy (basic panel)
- ACTC1
- ALPK3
- CSRP3
- DES
- FHL1
- FHOD3
- FLNC
- GLA
- LAMP2
- MYBPC3
- MYH7
- MYL2
- MYL3
- PRKAG2
- PTPN11
- TNNC1
- TNNI3
- TNNT2
- TPM1
- TRIM63
- TTR
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Hypertrophic cardiomyopathy (extended panel)
- ACTC1
- ALPK3
- CSRP3
- DES
- FHL1
- FHOD3
- FLNC
- GLA
- LAMP2
- MYBPC3
- MYH7
- MYL2
- MYL3
- PRKAG2
- PTPN11
- TNNC1
- TNNI3
- TNNT2
- TPM1
- TRIM63
- TTR
- AARS2
- ACAD9
- ACADVL
- ACTA1
- ACTN2
- AGK
- AGL
- AGPAT2
- ATPAF2
- BAG3
- BRAF
- CACNA1C
- CAV3
- CBL
- COA5
- COA6
- COQ2
- COX15
- COX6B1
- DLD
- DYSF
- ELAC2
- FAH
- FNIP1
- FOXRED1
- FXN
- GAA
- GFM1
- GLB1
- GNPTAB
- GUSB
- GYG1
- GYS1
- HRAS
- JPH2
- KCNJ8
- KLHL24
- KRAS
- LIAS
- LZTR1
- MAP2K1
- MAP2K2
- MLYCD
- MRAS
- MRPL3
- MRPL44
- MRPS22
- MTO1
- MYOT
- NAA10
- NDUFB11
- NRAS
- PLN
- PMM2
- QRSL1
- RAF1
- RIT1
- SCO2
- SHOC2
- SLC22A5
- SLC25A3
- SLC25A4
- SOS1
- SOS2
- SPRED1
- SURF1
- TAZ
- TMEM70
- TSFM
- VARS2
- ABCC9*
- AKT1*
- ANK2*
- ANKRD1*
- ATP5F1E*
- BSCL2*
- C10orf71*
- CALR*
- CALR3*
- CASQ2*
- CAVIN4*
- CDH2*
- CRYAB*
- CTF1*
- FHL2*
- GATA6*
- GSK3B*
- IDH2*
- JARID2*
- KLF10*
- LAMA2*
- LDB3*
- LMNA*
- MEF2C*
- MYH6*
- MYLK2*
- MYOM1*
- MYOZ2*
- MYPN*
- NEXN*
- NF1*
- OBSCN*
- P2RX7*
- PDHA1*
- PDLIM3*
- PHKA1*
- PHKB*
- PKD2*
- PPA2*
- PPP1CB*
- RBM20*
- RRAS*
- RYR2*
- SDHA*
- TCAP*
- TMOD1*
- TRIM54*
- VCL*
- WISP1*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Dilated cardiomyopathy – Non-compaction cardiomyopathy
- ACTC1
- BAG3
- DES
- DMD
- DSP
- EMD
- FLNC
- HCN4
- LAMP2
- LMNA
- MYBPC3
- MYH7
- NKX2-5
- PLN
- PRDM16
- RBM20
- SCN5A
- TBX20
- TNNC1
- TNNT2
- TTN
- FHOD3
- ACTA1
- ACTN2
- ALMS1
- ALPK3
- ANO5
- ASNA1
- DNAJC19
- DOLK
- DSC2
- DSG2
- DYSF
- FHL1
- FKRP
- FKTN
- GAA
- GLB1
- GYG1
- HFE
- JPH2
- KLF5
- LAMA2
- LMOD2
- MYL2
- MYOT
- MYZAP
- NONO
- PCCA
- PCCB
- PKP2
- PLEKHM2
- PPA2
- PPCS
- PPP1R13L
- PRKAG2
- QRSL1
- RPL3L
- SGCA
- RYR2
- SGCB
- SGCG
- SLC22A5
- SPEG
- TAZ
- TBX5
- TMEM43
- TMEM70
- TNNI3
- TNNI3K
- TOR1AIP1
- TPM1
- TRIM63
- TTR
- VCL
- ABCC9*
- AKT1*
- ANKRD1*
- CAV3*
- CASZ1*
- CAVIN4*
- CDC25B*
- CHRM2*
- COL7A1*
- CRYAB*
- CSRP3*
- CTF1*
- DNM1L*
- DTNA*
- EYA4*
- FBXO32*
- FHL2*
- FOXD4*
- GATA4*
- GATA5*
- GATA6*
- GLA*
- GATAD1*
- GSK3B*
- HAND1*
- HAND2*
- IDH2*
- ILK*
- ISL1*
- JARID2*
- JUP*
- KAT2B*
- KLHL24*
- LAMA4*
- LDB3*
- LEMD2*
- LRRC10*
- MEF2C*
- MIB1*
- MYBPHL*
- MYH6*
- MYL3*
- MYLK3 *
- MYPN*
- NDUFB11*
- NEBL*
- NEXN*
- NNT*
- NRAP*
- NUBPL*
- OBSCN*
- PDLIM3*
- PDLIM5*
- PKD2*
- PSEN1*
- PSEN2*
- PTPN11*
- RAF1*
- RBM24*
- SDHA*
- SGCD*
- SURF1*
- SYNE1*
- SYNE2*
- TCAP*
- TLL2*
- TMOD1*
- TUFM*
- TXNRD2*
- XK*
- ZBTB17*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Arrhythmogenic cardiomyopathy
- DES
- DSC2
- DSG2
- DSP
- EMD
- FLNC
- LMNA
- PKP2
- PLN
- RBM20
- TMEM43
- CDH2
- JUP
- RYR2
- SCN5A
- ACTN2*
- CASQ2*
- CTNNA1*
- CTNNA3*
- CTNNB1*
- ILK*
- LEMD2*
- MYZAP*
- PDLIM3*
- PERP*
- PKP4*
- PPP1R13L*
- TGFB3*
- TJP1*
- TP63*
- TTN*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Restrictive cardiomyopathy
- ACTC1
- DES
- FHL1
- FLNC
- GLA
- MYBPC3
- MYH7
- MYL2
- MYL3
- TNNC1
- TNNI3
- TNNT2
- TPM1
- TTR
- ACTN2
- HFE
- ALMS1*
- BAG3*
- CRYAB*
- LMNA*
- MYPN*
- TTN*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
RASopathies (Noonan, LEOPARD, Costello)
- BRAF
- HRAS
- KRAS
- LZTR1
- MAP2K1
- MAP2K2
- NRAS
- PTPN11
- RAF1
- RIT1
- SHOC2
- SOS1
- ALPK3
- CBL
- MRAS
- PPP1CB
- SOS2
- SPRED1
- A2ML1*
- KAT6B*
- MAP3K8*
- NF1*
- RASA1*
- RASA2*
- RRAS*
- SPRY1*
- SYNGAP1*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Mitochondrial genome sequencing
- MT-ATP6
- MT-ATP8
- MT-CO1
- MT-CO2
- MT-CO3
- MT-CYB
- MT-ND1
- MT-ND2
- MT-ND3
- MT-ND4
- MT-ND4L
- MT-ND5
- MT-ND6
- MT-RNR1
- MT-RNR2
- MT-TA
- MT-TC
- MT-TD
- MT-TE
- MT-TF
- MT-TG
- MT-TH
- MT-TI
- MT-TK
- MT-TL1
- MT-TL2
- MT-TM
- MT-TN
- MT-TP
- MT-TQ
- MT-TR
- MT-TS1
- MT-TS2
- MT-TT
- MT-TV
- MT-TW
- MT-TY
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Nuclear mitochondrial genes
- AARS2
- AASS
- ABAT
- ABCB6
- ABCB7
- ABCD1
- ACACA
- ACAD8
- ACAD9
- ACADM
- ACADS
- ACADSB
- ACADVL
- ACAT1
- ACO2
- ACOX1
- ACSF3
- ACSL4
- AFG3L2
- AGK
- AGXT
- AIFM1
- AK2
- ALAS2
- ALDH18A1
- ALDH2
- ALDH3A2
- ALDH4A1
- ALDH5A1
- ALDH6A1
- ALDH7A1
- AMACR
- AMT
- APOPT1
- APTX
- ARMS2
- ASS1
- ATAD3A
- ATIC
- ATP5F1A
- ATP5F1D
- ATP5F1E
- ATP5MD
- ATP7B
- ATPAF2
- AUH
- BAX
- BCKDHA
- BCKDHB
- BCKDK
- BCL2
- BCS1L
- BOLA3
- BTD
- C12orf65
- C19orf12
- C19orf70
- C1QBP
- CA5A
- CARS2
- CASP8
- CAT
- CAVIN1
- CHCHD10
- CHKB
- CISD2
- CLN3
- CLPB
- CLPP
- COA3
- COA5
- COA6
- COASY
- COQ2
- COQ4
- COQ5
- COQ6
- COQ7
- COQ8A
- COQ8B
- COQ9
- COX10
- COX14
- COX15
- COX20
- COX4I2
- COX6A1
- COX6A2
- COX6B1
- COX7B
- COX8A
- CPOX
- CPS1
- CPT1A
- CPT1C
- CPT2
- CYB5A
- CYB5R3
- CYBB
- CYC1
- CYCS
- CYP11A1
- CYP11B1
- CYP11B2
- CYP24A1
- CYP27A1
- CYP27B1
- D2HGDH
- DARS2
- DBT
- DECR1
- DGUOK
- DHODH
- DHTKD1
- DIABLO
- DLAT
- DLD
- DMGDH
- DMPK
- DNA2
- DNAJC19
- DNM1L
- DNM2
- EARS2
- ECHS1
- EHHADH
- ELAC2
- ETFA
- ETFB
- ETFDH
- ETHE1
- FARS2
- FASTKD2
- FBXL4
- FDX2
- FDXR
- FECH
- FH
- FLAD1
- FOXRED1
- FXN
- GARS
- GATM
- GCDH
- GCK
- GCSH
- GDAP1
- GFER
- GFM1
- GFM2
- GK
- GLDC
- GLRX5
- GLUD1
- GLYCTK
- GPD2
- GPT2
- GPX1
- GSR
- GTPBP3
- HADH
- HADHA
- HADHB
- HARS2
- HAX1
- HCCS
- HIBCH
- HK1
- HLCS
- HMGCL
- HMGCS2
- HOGA1
- HSD17B10
- HSD3B2
- HSPA9
- HSPD1
- HTRA2
- IARS2
- IBA57
- IDH2
- IDH3B
- ISCA2
- ISCU
- IVD
- KARS
- KIF1B
- KIF5A
- L2HGDH
- LARS2
- LIAS
- LIPT1
- LIPT2
- LONP1
- LRPPRC
- LYRM4
- LYRM7
- MAOA
- MAOB
- MARS2
- MCCC1
- MCCC2
- MCEE
- MDH2
- MFF
- MFN2
- MGME1
- MICU1
- MIPEP
- MLYCD
- MMAA
- MMAB
- MMACHC
- MMADHC
- MOCS1
- MPC1
- MPV17
- MRPL3
- MRPL44
- MRPS14
- MRPS16
- MRPS2
- MRPS22
- MRPS25
- MRPS34
- MRPS7
- MSRB3
- MTFMT
- MTHFD1
- MTO1
- MTPAP
- MTRR
- MUT
- MUTYH
- NADK2
- NAGS
- NARS2
- NDUFA1
- NDUFA10
- NDUFA11
- NDUFA12
- NDUFA13
- NDUFA2
- NDUFA4
- NDUFA6
- NDUFA8
- NDUFA9
- NDUFAF1
- NDUFAF2
- NDUFAF3
- NDUFAF4
- NDUFAF5
- NDUFAF6
- NDUFAF8
- NDUFB11
- NDUFB3
- NDUFB8
- NDUFB9
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS6
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NFU1
- NNT
- NTHL1
- NUBPL
- OAT
- OGDH
- OGG1
- OPA1
- OPA3
- OTC
- OXCT1
- PAM16
- PANK2
- PARK7
- PARS2
- PC
- PCCA
- PCCB
- PCK2
- PDHA1
- PDHB
- PDHX
- PDK3
- PDP1
- PDSS1
- PDSS2
- PDX1
- PET100
- PHB
- PINK1
- PNKD
- PNPLA8
- PNPT1
- POLG
- POLG2
- PPM1K
- PPOX
- PRODH
- PTCD3
- PTRH2
- PTS
- PUS1
- PYCR1
- PYCR2
- QDPR
- RANBP2
- RARS2
- REEP1
- RMND1
- RNASEH1
- RNASEL
- RRM2B
- SARDH
- SARS2
- SCO1
- SCO2
- SCP2
- SDHA
- SDHAF1
- SDHAF2
- SDHB
- SDHC
- SDHD
- SERAC1
- SFXN4
- SLC16A1
- SLC19A3
- SLC25A1
- SLC25A12
- SLC25A13
- SLC25A15
- SLC25A19
- SLC25A20
- SLC25A22
- SLC25A26
- SLC25A3
- SLC25A38
- SLC25A4
- SLC25A46
- SOD1
- SOD2
- SPART
- SPG7
- SPTLC2
- STAR
- STOM
- SUCLA2
- SUCLG1
- SUGCT
- SUOX
- SURF1
- TACO1
- TARS2
- TAZ
- TCIRG1
- TFAM
- TIMM44
- TIMM8A
- TIMMDC1
- TK2
- TMEM126A
- TMEM126B
- TMEM70
- TMLHE
- TPP1
- TRIT1
- TRMT10C
- TRMT5
- TRMU
- TRNT1
- TSFM
- TTBK2
- TTC19
- TUFM
- TWNK
- TXN2
- TXNRD2
- TYMP
- UCP1
- UCP3
- UNG
- UQCC2
- UQCC3
- UQCRB
- UQCRC2
- UQCRFS1
- UQCRQ
- UROS
- VARS2
- WARS2
- WDR81
- XPNPEP3
- YARS2
- YME1L1
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Fabry disease. Sequencing of the GLA gene
- GLA
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Familial amyloidosis. Sequencing of the TTR gene
- TTR
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Long QT syndrome (basic panel)
- KCNH2
- KCNJ2
- KCNQ1
- CACNA1C
- SCN5A
- CALM1
- CALM2
- CALM3
- KCNE1
- KCNE2
- TRDN
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Long QT syndrome (extended panel)
- CACNA1C
- CALM1
- CALM2
- CALM3
- KCNE1
- KCNE2
- KCNH2
- KCNJ2
- KCNQ1
- SCN5A
- TRDN
- AKAP9
- ALPK3
- ANK2
- KCNJ5
- NAA10
- RYR2
- SCN4B
- SNTA1
- TECRL
- CAV3*
- CAVIN1*
- FHL2*
- HCN4*
- KCNA5*
- KCND2*
- KCND3*
- KCNE3*
- KCNE5*
- NOS1AP*
- RNF207*
- SCN1B*
- SCN3B*
- SCN4A*
- SLC22A5*
- TRPM4*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Short QT syndrome
- SLC22A5
- KCNH2
- KCNJ2
- KCNQ1
- CACNA1C
- CACNA2D1
- CACNB2
- SLC4A3
- CACNA1D*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Catecholaminergic polymorphic ventricular tachycardia
- RYR2
- CASQ2
- CALM1
- CALM2
- CALM3
- TRDN
- KCNJ2
- TECRL
- ANK2*
- PKP2*
- SCN5A*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Brugada syndrome / J wave syndrome
- SCN5A
- HCN4
- KCND3
- CACNA1C
- CACNA2D1
- CACNB2
- KCND2*
- KCNE3*
- KCNE5*
- SCN1B*
- SCN3B*
- SCN4A*
- TRPM4*
- KCNH2*
- ANK2*
- SCN4B*
- ABCC9*
- IRX3*
- PKP2*
- KCNJ8*
- FGF12*
- GPD1L*
- RANGRF*
- RRAD*
- SCN10A*
- SCN2B*
- SEMA3A*
- SLMAP*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Cardiac conduction disease
- SCN5A
- HCN4
- LMNA
- EMD
- NKX2-5
- TBX5
- DES
- LAMP2
- PRKAG2
- MYH6
- TNNI3K
- KCNJ2
- ACTC1
- TTR
- GJA5
- NPPA
- TRPM4
- CACNA1D
- GLA
- GAA
- ANK2*
- RYR2*
- SCN4A*
- KCNH2*
- IRX3*
- SCN10A*
- KCNJ5*
- MYBPHL*
- PITX2*
- SHOX2*
- MYH7*
- SCN1B*
- SCN4B*
- KCNQ1*
- KCNE2*
- GATA4*
- GNB2*
- MYL4*
- PKP2*
- CASQ2*
- SLMAP*
- SLC22A5*
- LDB3*
- CALR3*
- DSP*
- DSC2*
- DSG2*
- JUP*
- HFE*
- ATP1A3*
- BVES*
- KCNJ3*
- KCNK17*
- POPDC2*
fibrilacion
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Atrial fibrillation
- LMNA
- MYH7
- SCN5A
- TTN
- ACTC1
- EMD
- GATA4
- GJA5
- GNB2
- HCN4
- KCNA5
- KCND2
- KCND3
- KCNE1
- KCNE2
- KCNE3
- KCNE5
- KCNJ2
- KCNQ1
- MYL4
- NKX2-5
- NPPA
- SCN1B
- SCN2B
- SCN4B
- TBX5
- TTR
- ABCC9*
- ANK2*
- CACNB2*
- GATA5*
- GATA6*
- GJA1*
- GREM2*
- IRX3*
- JPH2*
- KCNH2*
- KCNJ5*
- KCNJ8*
- MYBPHL*
- MYH6*
- NKX2-6*
- NUP155*
- PITX2*
- RYR2*
- SCN10A*
- SCN3B*
- SCN4A*
- SEMA3A*
- SHOX2*
- TNNI3*
- TNNI3K*
- TNNT2*
- TPM1*
- ZFHX3*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Aortic and vascular disorders
- ACTA2
- COL3A1
- FBN1
- LOX
- MYH11
- MYLK
- PRKG1
- SKI
- SMAD3
- TGFB2
- TGFBR1
- TGFBR2
- ADAMTS2
- ADAMTSL4
- B3GAT3
- B4GALT7
- BGN
- C1R
- C1S
- CBS
- CHST14
- DSE
- EFEMP2
- ELN
- FBN2
- FKBP14
- FLNA
- FOXE3
- GAA
- MAT2A
- MFAP5
- MMADHC
- MTHFR
- MTR
- MTRR
- NOTCH1
- PLOD1
- PPP1CB
- PRDM5
- PTPN11
- SLC2A10
- SLC39A13
- SMAD4
- SMAD6
- TGFB3
- TNXB
- ZNF469
- ATP7A*
- COL11A1*
- COL11A2*
- COL12A1*
- COL1A1*
- COL1A2*
- COL2A1*
- COL4A1*
- COL5A1*
- COL5A2*
- COL6A1*
- COL6A2*
- COL6A3*
- COL9A1*
- COL9A2*
- COL9A3*
- DLG4*
- EFEMP1*
- FBLN5*
- GATA5*
- HEY2*
- HRAS*
- KCNJ8*
- LMOD1*
- LTBP1*
- MED12*
- MFAP4*
- NKX2-5*
- PIEZO2*
- ROBO4*
- SMAD2*
- SOX18*
- THSD4*
- ZDHHC9*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Ehlers-Danlos syndromes
- ADAMTS2
- AEBP1
- B3GALT6
- B4GALT7
- C1R
- C1S
- CHST14
- COL12A1
- COL1A1
- COL1A2
- COL3A1
- COL5A1
- COL5A2
- DSE
- FKBP14
- FLNA
- SLC39A13
- TNXB
- ZNF469
- COL6A1
- COL6A2
- COL6A3
- EFEMP2
- BGN
- ELN
- FBN1
- FBN2
- LOX
- PLOD1
- PLOD3
- PRDM5
- SKI
- SLC2A10
- SMAD3
- TGFB2
- TGFB3
- TGFBR1
- TGFBR2
- ATP7A*
- COL11A1*
- COL11A2*
- COL2A1*
- COL9A1*
- COL9A2*
- COL9A3*
- FBLN5*
- PIEZO2*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Congenital heart diseases
- ACTC1
- ACVR1
- ACVR2B
- ACVRL1
- ANKRD1
- B3GAT3
- BMPR2
- BRAF
- CBL
- CFC1
- CHD7
- CITED2
- COL1A1
- COL1A2
- COL3A1
- COL5A1
- COL5A2
- CREBBP
- CRELD1
- DTNA
- EFEMP2
- EHMT1
- ELN
- ENG
- EP300
- EVC
- EYA4
- FBN1
- FBN2
- FLNA
- FOXC1
- FOXF1
- FOXH1
- FOXP1
- GAA
- GATA4
- GATA5
- GATA6
- GDF1
- GJA1
- GJA5
- HAND2
- HRAS
- IRX4
- ISL1
- JAG1
- KANSL1
- KCNA5
- KCNJ8
- KCNK3
- KMT2D
- KRAS
- LEFTY2
- MAP2K1
- MAP2K2
- MCTP2
- MED12
- MED13L
- MFAP5
- MIB1
- MYBPC3
- MYH11
- MYH6
- MYH7
- MYLK
- NEXN
- NF1
- NKX2-5
- NKX2-6
- NODAL
- NOTCH1
- NOTCH2
- NOTCH3
- NPHP4
- NRAS
- PDGFRA
- PITX2
- PLOD1
- PRKG1
- PTPN11
- RAF1
- RASA1
- RASA2
- RIT1
- SALL4
- SHOC2
- SKI
- SLC2A10
- SMAD1
- SMAD3
- SMAD4
- SMAD6
- SMAD9
- SOS1
- SOS2
- SPRED1
- TAB2
- TBX1
- TBX20
- TBX5
- TDGF1
- TFAP2B
- TGFB2
- TGFB3
- TGFBR1
- TGFBR2
- TNNI3
- TNNI3K
- TOPBP1
- UPF3B
- ZDHHC9
- ZFPM2
- ZIC3
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Pulmonary arterial hypertension
- BMPR2
- ACVRL1
- CAV1
- EIF2AK4
- ENG
- GDF2
- KCNK3
- NOTCH3
- RASA1
- SMAD9
- TBX4
- AQP1
- ATP13A3
- BMPR1B
- EDN1
- FOXF1
- FOXRED1
- KCNA5
- KLF2
- LIPT1
- NFUI
- SMAD1
- SMAD4
- SOX17
- TOPBP1
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Inherited heart diseases
- ACTA2
- ACTC1
- ADAMTS2
- ALPK3
- BAG3
- BRAF
- CACNA1C
- CALM1
- CALM2
- CALM3
- CASQ2
- COL3A1
- CSRP3
- DES
- DMD
- DSC2
- DSG2
- DSP
- EMD
- FBN1
- FHL1
- FHOD3
- FLNC
- GLA
- HCN4
- HRAS
- KCNE1
- KCNE2
- KCNH2
- KCNJ2
- KCNQ1
- KRAS
- LAMP2
- LMNA
- LOX
- LZTR1
- MAP2K1
- MAP2K2
- MYBPC3
- MYH11
- MYH7
- MYL2
- MYL3
- MYLK
- NKX2-5
- NRAS
- PKP2
- PLN
- PRDM16
- PRKAG2
- PRKG1
- PTPN11
- RAF1
- RBM20
- RIT1
- RYR2
- SCN5A
- SHOC2
- SKI
- SLC22A5
- SMAD3
- SOS1
- TBX20
- TBX5
- TGFB2
- TGFBR1
- TGFBR2
- TMEM43
- TNNC1
- TNNI3
- TNNT2
- TPM1
- TRIM63
- TTN
- TTR
- AARS2
- ACAD9
- ACADVL
- ACTA1
- ACTN2
- ADAMTS10
- ADAMTS17
- ADAMTSL4
- AEBP1
- AGK
- AGL
- AGPAT2
- AKAP9
- ALMS1
- ANO5
- ASNA1
- ATPAF2
- B3GALT6
- B3GAT3
- B4GALT7
- BGN
- C1R
- C1S
- CACNA1D
- CACNA2D1
- CACNB2
- CAV3
- CBL
- CBS
- CDH2
- CHST14
- COA5
- COA6
- COQ2
- COX15
- COX6B1
- DLD
- DNAJC19
- DOLK
- DSE
- DYSF
- EFEMP2
- ELAC2
- ELN
- FAH
- FBN2
- FKBP14
- FKRP
- FKTN
- FLNA
- FNIP1
- FOXE3
- FOXRED1
- FXN
- GAA
- GATA4
- GFM1
- GJA5
- GLB1
- GNB2
- GNPTAB
- GUSB
- GYG1
- GYS1
- HFE
- JPH2
- JUP
- KCNA5
- KCND2
- KCND3
- KCNE3
- KCNE5
- KCNJ5
- KCNJ8
- KLF5
- KLHL24
- LAMA2
- LIAS
- LMOD2
- MAT2A
- MFAP5
- MLYCD
- MMADHC
- MRAS
- MRPL3
- MRPL44
- MRPS22
- MTHFR
- MTO1
- MTR
- MTRR
- MYH6
- MYL4
- MYOT
- MYZAP
- NAA10
- NDUFB11
- NONO
- NOTCH1
- NPPA
- PCCA
- PCCB
- PLEKHM2
- PLOD1
- PLOD3
- PMM2
- PPA2
- PPCS
- PPP1CB
- PPP1R13L
- PRDM5
- QRSL1
- RPL3L
- SCN1B
- SCN2B
- SCN4A
- SCN4B
- SCO2
- SGCA
- SGCB
- SGCG
- SLC25A3
- SLC25A4
- SLC2A10
- SLC39A13
- SLC4A3
- SMAD4
- SMAD6
- SNTA1
- SOS2
- SPEG
- SPRED1
- SURF1
- TAZ
- TECRL
- TGFB3
- TMEM70
- TNNI3K
- TNXB
- TOR1AIP1
- TRDN
- TRPM4
- TSFM
- VARS2
- VCL
- ZNF469
- A2ML1*
- ABCC9*
- AKT1*
- ANK2*
- ANKRD1*
- ATP1A3*
- ATP5F1E*
- ATP7A*
- BSCL2*
- BVES*
- C10orf71*
- CALR*
- CALR3*
- CASZ1*
- CAVIN1*
- CAVIN4*
- CDC25B*
- CHRM2*
- COL11A1*
- COL11A2*
- COL12A1*
- COL1A1*
- COL1A2*
- COL2A1*
- COL4A1*
- COL4A5*
- COL5A1*
- COL5A2*
- COL6A1*
- COL6A2*
- COL6A3*
- COL7A1*
- COL9A1*
- COL9A2*
- COL9A3*
- CRYAB*
- CTF1*
- CTNNA1*
- CTNNA3*
- CTNNB1*
- DLG4*
- DNM1L*
- DTNA*
- EFEMP1*
- EYA4*
- FBLN5*
- FBXO32*
- FGF12*
- FHL2*
- FOXD4*
- GATA5*
- GATA6*
- GATAD1*
- GJA1*
- GPD1L*
- GREM2*
- GSK3B*
- HAND1*
- HAND2*
- HEY2*
- IDH2*
- ILK*
- IRX3*
- ISL1*
- JARID2*
- KAT2B*
- KAT6B*
- KCNJ3*
- KCNK17*
- KLF10*
- LAMA4*
- LDB3*
- LEMD2*
- LMOD1*
- LRRC10*
- LTBP1*
- MAP3K8*
- MCTP2*
- MED12*
- MEF2C*
- MFAP4*
- MIB1*
- MYBPHL*
- MYLK2*
- MYLK3 *
- MYOM1*
- MYOZ2*
- MYPN*
- NEBL*
- NEXN*
- NF1*
- NKX2-6*
- NNT*
- NOS1AP*
- NRAP*
- NUBPL*
- NUP155*
- OBSCN*
- P2RX7*
- PDHA1*
- PDLIM3*
- PDLIM5*
- PERP*
- PHKA1*
- PHKB*
- PIEZO2*
- PITX2*
- PKD2*
- PKP4*
- POPDC2*
- PSEN1*
- PSEN2*
- RANGRF*
- RASA1*
- RASA2*
- RBM24*
- RNF207*
- ROBO4*
- RRAD*
- RRAS*
- SCN10A*
- SCN3B*
- SDHA*
- SGCD*
- SEMA3A*
- SHOX2*
- SLMAP*
- SMAD2*
- SOX18*
- SPRY1*
- SYNE1*
- SYNE2*
- SYNGAP1*
- TCAP*
- THSD4*
- TJP1*
- TLL2*
- TMOD1*
- TP63*
- TRIM54*
- TUFM*
- TXNRD2*
- WISP1*
- XK*
- ZBTB17*
- ZDHHC9*
- ZFHX3*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
Enfermedades cardiacas hereditarias
- ACTA2
- ACTC1
- ADAMTS2
- ALPK3
- BAG3
- BRAF
- CACNA1C
- CALM1
- CALM2
- CALM3
- CASQ2
- COL3A1
- CSRP3
- DES
- DMD
- DSC2
- DSG2
- DSP
- EMD
- FBN1
- FHL1
- FHOD3
- FLNC
- GLA
- HCN4
- HRAS
- KCNE1
- KCNE2
- KCNH2
- KCNJ2
- KCNQ1
- KRAS
- LAMP2
- LMNA
- LOX
- LZTR1
- MAP2K1
- MAP2K2
- MYBPC3
- MYH11
- MYH7
- MYL2
- MYL3
- MYLK
- NKX2-5
- NRAS
- PKP2
- PLN
- PRDM16
- PRKAG2
- PRKG1
- PTPN11
- RAF1
- RBM20
- RIT1
- RYR2
- SCN5A
- SHOC2
- SKI
- SLC22A5
- SMAD3
- SOS1
- TBX20
- TBX5
- TGFB2
- TGFBR1
- TGFBR2
- TMEM43
- TNNC1
- TNNI3
- TNNT2
- TPM1
- TRIM63
- TTN
- TTR
- AARS2
- ACAD9
- ACADVL
- ACTA1
- ACTN2
- ADAMTS10
- ADAMTS17
- ADAMTSL4
- AEBP1
- AGK
- AGL
- AGPAT2
- AKAP9
- ALMS1
- ANO5
- ASNA1
- ATPAF2
- B3GALT6
- B3GAT3
- B4GALT7
- BGN
- C1R
- C1S
- CACNA1D
- CACNA2D1
- CACNB2
- CAV3
- CBL
- CBS
- CDH2
- CHST14
- COA5
- COA6
- COQ2
- COX15
- COX6B1
- DLD
- DNAJC19
- DOLK
- DSE
- DYSF
- EFEMP2
- ELAC2
- ELN
- FAH
- FBN2
- FKBP14
- FKRP
- FKTN
- FLNA
- FNIP1
- FOXE3
- FOXRED1
- FXN
- GAA
- GATA4
- GFM1
- GJA5
- GLB1
- GNB2
- GNPTAB
- GUSB
- GYG1
- GYS1
- HFE
- JPH2
- JUP
- KCNA5
- KCND2
- KCND3
- KCNE3
- KCNE5
- KCNJ5
- KCNJ8
- KLF5
- KLHL24
- LAMA2
- LIAS
- LMOD2
- MAT2A
- MFAP5
- MLYCD
- MMADHC
- MRAS
- MRPL3
- MRPL44
- MRPS22
- MTHFR
- MTO1
- MTR
- MTRR
- MYH6
- MYL4
- MYOT
- MYZAP
- NAA10
- NDUFB11
- NONO
- NOTCH1
- NPPA
- PCCA
- PCCB
- PLEKHM2
- PLOD1
- PLOD3
- PMM2
- PPA2
- PPCS
- PPP1CB
- PPP1R13L
- PRDM5
- QRSL1
- RPL3L
- SCN1B
- SCN2B
- SCN4A
- SCN4B
- SCO2
- SGCA
- SGCB
- SGCG
- SLC25A3
- SLC25A4
- SLC2A10
- SLC39A13
- SLC4A3
- SMAD4
- SMAD6
- SNTA1
- SOS2
- SPEG
- SPRED1
- SURF1
- TAZ
- TECRL
- TGFB3
- TMEM70
- TNNI3K
- TNXB
- TOR1AIP1
- TRDN
- TRPM4
- TSFM
- VARS2
- VCL
- ZNF469
- A2ML1*
- ABCC9*
- AKT1*
- ANK2*
- ANKRD1*
- ATP1A3*
- ATP5F1E*
- ATP7A*
- BSCL2*
- BVES*
- C10orf71*
- CALR*
- CALR3*
- CASZ1*
- CAVIN1*
- CAVIN4*
- CDC25B*
- CHRM2*
- COL11A1*
- COL11A2*
- COL12A1*
- COL1A1*
- COL1A2*
- COL2A1*
- COL4A1*
- COL4A5*
- COL5A1*
- COL5A2*
- COL6A1*
- COL6A2*
- COL6A3*
- COL7A1*
- COL9A1*
- COL9A2*
- COL9A3*
- CRYAB*
- CTF1*
- CTNNA1*
- CTNNA3*
- CTNNB1*
- DLG4*
- DNM1L*
- DTNA*
- EFEMP1*
- EYA4*
- FBLN5*
- FBXO32*
- FGF12*
- FHL2*
- FOXD4*
- GATA5*
- GATA6*
- GATAD1*
- GJA1*
- GPD1L*
- GREM2*
- GSK3B*
- HAND1*
- HAND2*
- HEY2*
- IDH2*
- ILK*
- IRX3*
- ISL1*
- JARID2*
- KAT2B*
- KAT6B*
- KCNJ3*
- KCNK17*
- KLF10*
- LAMA4*
- LDB3*
- LEMD2*
- LMOD1*
- LRRC10*
- LTBP1*
- MAP3K8*
- MCTP2*
- MED12*
- MEF2C*
- MFAP4*
- MIB1*
- MYBPHL*
- MYLK2*
- MYLK3 *
- MYOM1*
- MYOZ2*
- MYPN*
- NEBL*
- NEXN*
- NF1*
- NKX2-6*
- NNT*
- NOS1AP*
- NRAP*
- NUBPL*
- NUP155*
- OBSCN*
- P2RX7*
- PDHA1*
- PDLIM3*
- PDLIM5*
- PERP*
- PHKA1*
- PHKB*
- PIEZO2*
- PITX2*
- PKD2*
- PKP4*
- POPDC2*
- PSEN1*
- PSEN2*
- RANGRF*
- RASA1*
- RASA2*
- RBM24*
- RNF207*
- ROBO4*
- RRAD*
- RRAS*
- SCN10A*
- SCN3B*
- SDHA*
- SGCD*
- SEMA3A*
- SHOX2*
- SLMAP*
- SMAD2*
- SOX18*
- SPRY1*
- SYNE1*
- SYNE2*
- SYNGAP1*
- TCAP*
- THSD4*
- TJP1*
- TLL2*
- TMOD1*
- TP63*
- TRIM54*
- TUFM*
- TXNRD2*
- WISP1*
- XK*
- ZBTB17*
- ZDHHC9*
- ZFHX3*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
General panel of cardiomyopathies
- ACTC1
- ALPK3
- BAG3
- BRAF
- CSRP3
- DES
- DMD
- DSC2
- DSG2
- DSP
- EMD
- FHL1
- FHOD3
- FLNC
- GLA
- HCN4
- HRAS
- KRAS
- LAMP2
- LMNA
- LZTR1
- MAP2K1
- MAP2K2
- MYBPC3
- MYH7
- MYL2
- MYL3
- NKX2-5
- NRAS
- PKP2
- PLN
- PPP1CB
- PRDM16
- PRKAG2
- PTPN11
- RAF1
- RBM20
- RIT1
- RYR2
- SCN5A
- SHOC2
- SOS1
- TBX20
- TMEM43
- TNNC1
- TNNI3
- TNNT2
- TPM1
- TRIM63
- TTN
- TTR
- AARS2
- ACAD9
- ACADVL
- ACTA1
- ACTN2
- AGK
- AGL
- AGPAT2
- ALMS1
- ANO5
- ASNA1
- ATPAF2
- CAV3
- CBL
- CDH2
- COA5
- COA6
- COQ2
- COX15
- COX6B1
- DLD
- DNAJC19
- DOLK
- DYSF
- ELAC2
- FAH
- FKRP
- FKTN
- FNIP1
- FOXRED1
- FXN
- GAA
- GATA4
- GFM1
- GLB1
- GNPTAB
- GUSB
- GYG1
- GYS1
- HFE
- JPH2
- JUP
- KCNJ8
- KLF5
- KLHL24
- LAMA2
- LIAS
- LMOD2
- MLYCD
- MRAS
- MRPL3
- MRPL44
- MRPS22
- MTO1
- MYOT
- MYZAP
- NAA10
- NDUFB11
- NONO
- PCCA
- PCCB
- PLEKHM2
- PMM2
- PPA2
- PPCS
- PPP1R13L
- QRSL1
- RPL3L
- SCO2
- SGCA
- SGCB
- SGCG
- SLC22A5
- SLC25A3
- SLC25A4
- SOS2
- SPEG
- SPRED1
- SURF1
- TAZ
- TBX5
- TMEM70
- TNNI3K
- TOR1AIP1
- TSFM
- VARS2
- VCL
- ABCC9*
- AKT1*
- ANK2*
- ANKRD1*
- ATP5F1E*
- BSCL2*
- C10orf71*
- CACNA1C*
- CALR*
- CALR3*
- CASQ2*
- CASZ1*
- CAVIN4*
- CDC25B*
- CHRM2*
- COL7A1*
- CRYAB*
- CTF1*
- CTNNA1*
- CTNNA3*
- CTNNB1*
- DNM1L*
- DTNA*
- EYA4*
- FBXO32*
- FHL2*
- FOXD4*
- GATA5*
- GATA6*
- GATAD1*
- GSK3B*
- HAND1*
- HAND2*
- IDH2*
- ILK*
- IRX3*
- ISL1*
- JARID2*
- KAT2B*
- KLF10*
- LAMA4*
- LDB3*
- LEMD2*
- LRRC10*
- MEF2C*
- MIB1*
- MYBPHL*
- MYH6*
- MYLK2*
- MYLK3 *
- MYOM1*
- MYOZ2*
- MYPN*
- NEBL*
- NEXN*
- NF1*
- NNT*
- NRAP*
- NUBPL*
- OBSCN*
- P2RX7*
- PDHA1*
- PDLIM3*
- PDLIM5*
- PERP*
- PHKA1*
- PHKB*
- PKD2*
- PKP4*
- PSEN1*
- PSEN2*
- RBM24*
- RRAS*
- SGCD*
- SDHA*
- SYNE1*
- SYNE2*
- TCAP*
- TGFB3*
- TJP1*
- TLL2*
- TMOD1*
- TP63*
- TRIM54*
- TUFM*
- TXNRD2*
- WISP1*
- XK*
- ZBTB17*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
General panel of cardiomyopathies, arrhythmias and sudden death
- ACTC1
- ALPK3
- BAG3
- BRAF
- CACNA1C
- CALM1
- CALM2
- CALM3
- CASQ2
- CSRP3
- DES
- DMD
- DSC2
- DSG2
- DSP
- EMD
- FHL1
- FHOD3
- FLNC
- GLA
- HCN4
- HRAS
- KCNE1
- KCNE2
- KCNH2
- KCNJ2
- KCNQ1
- KRAS
- LAMP2
- LMNA
- LZTR1
- MAP2K1
- MAP2K2
- MYBPC3
- MYH7
- MYL2
- MYL3
- NKX2-5
- NRAS
- PKP2
- PLN
- PRDM16
- PRKAG2
- PTPN11
- RAF1
- RBM20
- RIT1
- RYR2
- SCN5A
- SHOC2
- SLC22A5
- SOS1
- TBX20
- TBX5
- TMEM43
- TNNC1
- TNNI3
- TNNT2
- TPM1
- TRIM63
- TTN
- TTR
- AARS2
- ACAD9
- ACADVL
- ACTA1
- ACTN2
- AGK
- AGL
- AGPAT2
- AKAP9
- ALMS1
- ANO5
- ASNA1
- ATPAF2
- CACNA1D
- CACNA2D1
- CACNB2
- CAV3
- CBL
- CDH2
- COA5
- COA6
- COQ2
- COX15
- COX6B1
- DLD
- DNAJC19
- DOLK
- DYSF
- ELAC2
- FAH
- FKRP
- FKTN
- FNIP1
- FOXRED1
- FXN
- GAA
- GATA4
- GFM1
- GJA5
- GLB1
- GNB2
- GNPTAB
- GUSB
- GYG1
- GYS1
- HFE
- JPH2
- JUP
- KCNA5
- KCND2
- KCND3
- KCNE3
- KCNE5
- KCNJ5
- KCNJ8
- KLF5
- KLHL24
- LAMA2
- LIAS
- LMOD2
- MLYCD
- MRAS
- MRPL3
- MRPL44
- MRPS22
- MTO1
- MYH6
- MYL4
- MYOT
- MYZAP
- NAA10
- NDUFB11
- NONO
- NPPA
- PCCA
- PCCB
- PLEKHM2
- PMM2
- PPA2
- PPCS
- PPP1CB
- PPP1R13L
- QRSL1
- RPL3L
- SCN1B
- SCN2B
- SCN4A
- SCN4B
- SCO2
- SGCA
- SGCB
- SGCG
- SLC25A3
- SLC25A4
- SLC4A3
- SNTA1
- SOS2
- SPEG
- SPRED1
- SURF1
- TAZ
- TECRL
- TMEM70
- TNNI3K
- TOR1AIP1
- TRDN
- TRPM4
- TSFM
- VARS2
- VCL
- A2ML1*
- ABCC9*
- AKT1*
- ANK2*
- ANKRD1*
- ATP1A3*
- ATP5F1E*
- BSCL2*
- BVES*
- C10orf71*
- CALR*
- CALR3*
- CASZ1*
- CAVIN1*
- CAVIN4*
- CDC25B*
- CHRM2*
- COL7A1*
- CRYAB*
- CTF1*
- CTNNA1*
- CTNNA3*
- CTNNB1*
- DNM1L*
- DTNA*
- EYA4*
- FBXO32*
- FGF12*
- FHL2*
- FOXD4*
- GATA5*
- GATA6*
- GATAD1*
- GJA1*
- GPD1L*
- GREM2*
- GSK3B*
- HAND1*
- HAND2*
- IDH2*
- ILK*
- IRX3*
- ISL1*
- JARID2*
- KAT2B*
- KAT6B*
- KCNJ3*
- KCNK17*
- KLF10*
- LAMA4*
- LDB3*
- LEMD2*
- LRRC10*
- MAP3K8*
- MEF2C*
- MIB1*
- MYBPHL*
- MYLK2*
- MYLK3 *
- MYOM1*
- MYOZ2*
- MYPN*
- NEBL*
- NEXN*
- NF1*
- NKX2-6*
- NNT*
- NOS1AP*
- NRAP*
- NUBPL*
- NUP155*
- OBSCN*
- P2RX7*
- PDHA1*
- PDLIM3*
- PDLIM5*
- PERP*
- PHKA1*
- PHKB*
- PITX2*
- PKD2*
- PKP4*
- POPDC2*
- PSEN1*
- PSEN2*
- RANGRF*
- RASA1*
- RASA2*
- RBM24*
- RNF207*
- RRAD*
- RRAS*
- SCN10A*
- SCN3B*
- SDHA*
- SGCD*
- SEMA3A*
- SHOX2*
- SLMAP*
- SPRY1*
- SYNE1*
- SYNE2*
- SYNGAP1*
- TCAP*
- TGFB3*
- TJP1*
- TLL2*
- TMOD1*
- TP63*
- TRIM54*
- TUFM*
- TXNRD2*
- WISP1*
- XK*
- ZBTB17*
- ZFHX3*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
General panel of arrhythmias and sudden death without structural cardiopathy
- CACNA1C
- CALM1
- CALM2
- CALM3
- CASQ2
- DES
- DSC2
- DSG2
- DSP
- EMD
- FLNC
- HCN4
- KCNE1
- KCNE2
- KCNH2
- KCNJ2
- KCNQ1
- LAMP2
- LMNA
- MYH7
- NKX2-5
- PKP2
- PRKAG2
- RYR2
- SCN5A
- TBX5
- TNNI3
- TNNT2
- TTN
- ACTC1
- AKAP9
- ALPK3
- CACNA1D
- CACNA2D1
- CACNB2
- GAA
- GATA4
- GJA5
- GLA
- GNB2
- HFE
- JPH2
- JUP
- KCNA5
- KCND2
- KCND3
- KCNE3
- KCNE5
- KCNJ5
- KCNJ8
- MYH6
- MYL4
- NAA10
- NPPA
- PLN
- SCN1B
- SCN2B
- SCN4A
- SCN4B
- SLC22A5
- SNTA1
- TECRL
- TNNI3K
- TPM1
- TRDN
- TRPM4
- TTR
- ABCC9*
- ANK2*
- ATP1A3*
- BVES*
- CALR3*
- CAV3*
- CAVIN1*
- FGF12*
- FHL2*
- GATA5*
- GATA6*
- GJA1*
- GPD1L*
- GREM2*
- IRX3*
- KCNJ3*
- KCNK17*
- LDB3*
- MYBPHL*
- NKX2-6*
- NOS1AP*
- NUP155*
- PITX2*
- POPDC2*
- RANGRF*
- RNF207*
- RRAD*
- SCN10A*
- SCN3B*
- SEMA3A*
- SHOX2*
- SLMAP*
- ZFHX3*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
General panel of cardiovascular diseases
- ACTC1
- ACVRL1
- APOB
- BAG3
- BMPR2
- BRAF
- CACNA1C
- CASQ2
- DES
- DMD
- DSC2
- DSG2
- DSP
- ELN
- EMD
- ENG
- FBN1
- FLNC
- GATA4
- GLA
- JAG1
- JUP
- KCNE1
- KCNE2
- KCNH2
- KCNJ2
- KCNJ8
- KCNQ1
- KRAS
- LAMP2
- LDLR
- LMNA
- LOX
- MYBPC3
- MYH7
- MYL2
- MYL3
- NF1
- NKX2-5
- PKP2
- PLN
- PRKAG2
- PTPN11
- RAF1
- RBM20
- RYR2
- SCN1B
- SCN5A
- SOS1
- SOS2
- TAZ
- TGFBR2
- TMEM43
- TNNC1
- TNNI3
- TNNT2
- TPM1
- TTN
- TTR
- A2ML1
- AARS2
- ABCA1
- ABCB1
- ABCC9
- ABCG1
- ABCG5
- ABCG8
- ACAD9
- ACADVL
- ACTA1
- ACTA2
- ACTN2
- ACVR1
- ACVR2B
- ADAMTS2
- ADAMTSL4
- AGK
- AGL
- AGPAT2
- AKAP9
- AKT1
- AKT2
- ALMS1
- AMPD1
- ANGPTL3
- ANK2
- ANKRD1
- ANO5
- APOA1
- APOA5
- APOC2
- APOC3
- APOE
- ASPH
- ATP5F1E
- ATP7A
- ATPAF2
- B3GAT3
- B4GALT7
- BLK
- BMP10
- BMPR1A
- BMPR1B
- BSCL2
- CACNA1D
- CACNA2D1
- CACNB2
- CALM1
- CALM2
- CALM3
- CALR3
- CAV1
- CAV3
- CAVIN4
- CBL
- CBS
- CEL
- CETP
- CFC1
- CH25H
- CHD7
- CHRM2
- CHST14
- CIDEC
- CITED2
- COA5
- COA6
- COL1A1
- COL1A2
- COL3A1
- COL5A1
- COL5A2
- COL7A1
- COQ2
- COX15
- COX6B1
- CPT2
- CREBBP
- CRELD1
- CRYAB
- CSRP3
- CTNNA3
- CYP2D6
- CYP3A4
- CYP3A5
- DLD
- DNAJC19
- DOLK
- DTNA
- EFEMP2
- EHMT1
- EIF2AK3
- EIF2AK4
- ELAC2
- EP300
- EVC
- EYA4
- FAH
- FBN2
- FHL1
- FHL2
- FHOD3
- FKBP14
- FKRP
- FKTN
- FLNA
- FOXC1
- FOXF1
- FOXH1
- FOXP1
- FOXP3
- FOXRED1
- FXN
- GAA
- GATA5
- GATA6
- GATAD1
- GCK
- GDF1
- GDF2
- GFM1
- GJA1
- GJA5
- GLB1
- GLIS3
- GNPTAB
- GPD1
- GPD1L
- GPIHBP1
- GUSB
- HAND2
- HCN4
- HFE
- HNF1A
- HNF1B
- HNF4A
- HRAS
- IER3IP1
- INS
- INSIG2
- INSR
- IRX4
- ISL1
- JPH2
- KANSL1
- KCND2
- KCND3
- KCNE3
- KCNE5
- KCNJ11
- KCNJ5
- KCNK17
- KLF11
- KMT2D
- LAMA2
- LAMA4
- LCAT
- LDB3
- LDLRAP1
- LEFTY2
- LEP
- LIAS
- LIPA
- LIPC
- LMF1
- LPA
- LPL
- LRP6
- LZTR1
- MAP2K1
- MAP2K2
- MCTP2
- MED12
- MED13L
- MEF2A
- MFAP5
- MIB1
- MLYCD
- MRPL3
- MRPL44
- MRPS22
- MTO1
- MTTP
- MYH11
- MYH6
- MYLIP
- MYLK
- MYOM1
- MYOT
- MYOZ2
- MYPN
- NEBL
- NEUROD1
- NEUROG3
- NEXN
- NKX2-6
- NNT
- NODAL
- NOTCH2
- NOTCH3
- NPC1L1
- NPHP4
- NRAS
- OBSCN
- PAX4
- PCDH15
- PCSK9
- PDGFRA
- PDHA1
- PDX1
- PHKA1
- PITX2
- PLIN1
- PLOD1
- PLTP
- PMM2
- PNPLA2
- PPARA
- PPARG
- PRDM16
- PRKG1
- PSEN1
- PSEN2
- PTF1A
- PYGM
- RANGRF
- RASA1
- RASA2
- RFX6
- RIT1
- RRAS
- RYR1
- SALL4
- SAR1B
- SCARB1
- SCN10A
- SCN2B
- SCN3B
- SCN4B
- SCO2
- SDHA
- SGCD
- SGCG
- SHOC2
- SKI
- SLC22A5
- SLC22A8
- SLC25A3
- SLC25A4
- SLC25A40
- SLC2A10
- SLC2A2
- SLC39A13
- SLCO1B1
- SLMAP
- SMAD1
- SMAD3
- SMAD4
- SMAD6
- SMAD9
- SNTA1
- SPEG
- SPRED1
- SURF1
- SYNE1
- SYNE2
- TAB2
- TBC1D4
- TBX1
- TBX20
- TBX5
- TCAP
- TDGF1
- TECRL
- TFAP2B
- TGFB2
- TGFB3
- TGFBR1
- TMEM70
- TNNI3K
- TOPBP1
- TOR1AIP1
- TRDN
- TRIB1
- TRIM63
- TRPM4
- TSFM
- TXNRD2
- UPF3B
- VCL
- WFS1
- XK
- ZBTB17
- ZDHHC9
- ZFPM2
- ZIC3
- ZMPSTE24
- ANK3*
- C10orf71*
- CALR*
- CASZ1*
- CAVIN1*
- CDH2*
- CTNNA1*
- CTNNB1*
- DNM1L*
- FBXO32*
- FGF12*
- GREM2*
- GSK3B*
- IDH2*
- ILK*
- IRX3*
- ISM2*
- JARID2*
- KAT6B*
- KCNA5*
- KCNK3*
- KLF10*
- LMOD2*
- MAP3K8*
- MEF2C*
- MYLK2*
- NONO*
- NOS1AP*
- NOTCH1*
- NPPA*
- NRAP*
- OPA3*
- PDLIM3*
- PERP*
- PKD2*
- PKP4*
- PPP1CB*
- PPP1R13L*
- RBM24*
- SGCA*
- SGCB*
- SPRY1*
- SYNGAP1*
- TMEM175*
- TMOD1*
- TRIM54*
- WISP1*
- WT1*
- ZFHX3*
- New genes: Genes incorporated into the panel based on the constant review of the scientific literature, in accordance with our commitment to continuous improvement.
- Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
- Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
- * Candidate Geness: Not enough evidence in humans, but potentially associated with the disease.
