Cardiology

Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae’s pricing is per clinical area for initial order and re-requisition.

All the tests on this page and in Neurology fall into a single clinical area. If your order contains tests from multiple clinical areas, you will need to send in two sample tubes and your order will represent two billable events. Your test results will be delivered as two reports. Please contact Client Services with any questions.

up to 148 genes

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel

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Genetic testing for up to 148 genes that cause hereditary primary arrhythmia and/or cardiomyopathy, as well as syndromic causes of cardiomyopathy.

GENES TESTED:

Primary Panel:
ABCC9 ACTC1 ACTN2 AGL ANK2 BAG3 CACNA1C CACNB2 CALM1 CALM2 CALM3 CASQ2 CAV3 CRYAB CSRP3 DES DMD DOLK DSC2 DSG2 DSP EMD EYA4 FHL1 FKRP FKTN FLNC GAA GLA GPD1L HCN4 JUP KCNA5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 LAMP2 LMNA MYBPC3 MYH7 MYL2 MYL3 MYL4 NKX2-5 PKP2 PLN PRKAG2 RAF1 RBM20 RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TGFB3 TMEM43 TNNC1 TNNI3 TNNT2 TPM1 TRDN TTN TTR VCL

DMD: Analysis guarantees del/dup detection at single-exon resolution.
FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T as well as the 3 kb retrotransposon insertion in the 3' UTR at c.*4287_*4288ins3062.
GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.
MYBPC3: Analysis includes the intronic variant NM_000256.3:c.3628-41_3628-17del25.
TTN: Deletion/duplication and sequencing analysis is not offered for exons 153-155 (NM_133378.4). Variants are named relative to the NM_001267550.2 (meta) transcript, but only variants in the coding sequence and intronic boundaries of the clinically relevant NM_133378.4 (N2A) isoform are reported (PMID: 25589632).

Add-on Preliminary-evidence Genes for Arrhythmia and Cardiomyopathy:
AKAP9 ANKRD1 CACNA2D1 CALR3 CHRM2 CTF1 CTNNA3 DTNA FHL2 GATA4 GATA6 GATAD1 GJA5 ILK JPH2 KCND3 KCNE3 KCNE5 KCNJ5 KCNJ8 KCNK3 LAMA4 LDB3 LRRC10 MYH6 MYLK2 MYOM1 MYOZ2 MYPN NEBL NEXN NPPA PDLIM3 PLEKHM2 PRDM16 RANGRF SCN10A SCN1B SCN2B SCN3B SCN4B SLMAP SNTA1 TMPO TRPM4 TXNRD2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

ANKRD1: Deletion/duplication analysis is not offered for exons 3 or 4.

Add-on RASopathy Genes:
A2ML1 BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11 RASA1 RIT1 RRAS SHOC2 SOS1 SOS2 SPRED1

Structural heart defects or hypertrophic cardiomyopathy are also common features of RASopathy conditions. Clinicians can choose to include these genes for no additional charge.

Add-on Autosomal Recessive Syndromic Pediatric Cardiomyopathy Genes:
ACADVL ALMS1 CPT2 DNAJC19 ELAC2 MTO1 SDHA TMEM70

Genes associated with early-onset cardiomyopathy as part of an autosomal recessive disorder may be included at no additional charge. Clinicians may wish to include these genes for patients who present in infancy or early childhood with clinical features of a multi-system disorder. Please note, SDHA is included due to its association with autosomal recessive mitochondrial complex II deficiency. However, SDHA is most commonly associated with autosomal dominant predisposition to cancer.

SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.

Add-on Sudden Unexpected Death in Epilepsy (SUDEP) Genes:
DEPDC5 KCNQ2 KCNQ3 KCNT1 PCDH19 PRRT2 SCN1A SCN8A SCN9A SLC2A1

The symptoms associated with arrhythmia and seizures can appear very similar and are known to co-occur in some cases. Some clinicians may wish to include a selection of genes associated with epilepsy for individuals with a differential diagnosis of arrhythmia vs. seizures, or a primary indication of arrhythmia and a family history of seizures.

KCNT1: Deletion/duplication analysis is not offered for exons 26 or 27.
SCN8A: Analysis includes exon 6 of NM_001330260.1.

up to 72 genes

Invitae Arrhythmia Comprehensive Panel

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Genetic testing for up to 72 genes that cause arrhythmia and arrhythmogenic cardiomyopathy, including long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT), and arrhythmogenic right ventricular cardiomyopathy (ARVC).

GENES TESTED:

Primary Panel:
ABCC9 ACTN2 ANK2 CACNA1C CACNB2 CALM1 CALM2 CALM3 CASQ2 CAV3 DES DSC2 DSG2 DSP EMD GPD1L HCN4 JUP KCNA5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 LMNA MYL4 NKX2-5 PKP2 PLN PRKAG2 RBM20 RYR2 SCN5A TGFB3 TMEM43 TNNI3 TNNT2 TRDN TTN

TTN: Deletion/duplication and sequencing analysis is not offered for exons 153-155 (NM_133378.4). Variants are named relative to the NM_001267550.2 (meta) transcript, but only variants in the coding sequence and intronic boundaries of the clinically relevant NM_133378.4 (N2A) isoform are reported (PMID: 25589632).

Add-on Preliminary-evidence Genes for Arrhythmia:
AKAP9 ANKRD1 CACNA2D1 CTNNA3 GJA5 KCND3 KCNE3 KCNE5 KCNJ5 KCNJ8 KCNK3 LDB3 NPPA PDLIM3 RANGRF SCN10A SCN1B SCN2B SCN3B SCN4B SLMAP SNTA1 TRPM4

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

ANKRD1: Deletion/duplication analysis is not offered for exons 3 or 4.

Add-on Sudden Unexpected Death in Epilepsy (SUDEP) Genes:
DEPDC5 KCNQ2 KCNQ3 KCNT1 PCDH19 PRRT2 SCN1A SCN8A SCN9A SLC2A1

The symptoms associated with arrhythmia and seizures can appear very similar and are known to co-occur in some cases. Some clinicians may wish to include a selection of genes associated with epilepsy for individuals with a differential diagnosis of arrhythmia vs. seizures, or a primary indication of arrhythmia and a family history of seizures.

KCNT1: Deletion/duplication analysis is not offered for exons 26 or 27.
SCN8A: Analysis includes exon 6 of NM_001330260.1.

up to 23 genes

Invitae Arrhythmogenic Cardiomyopathy Panel

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Genetic testing for up to 23 genes that cause arrhythmogenic cardiomyopathy, including ARVC and arrhythmogenic forms of DCM and HCM.

GENES TESTED:

Primary Panel:
ACTN2 DES DSC2 DSG2 DSP EMD JUP LMNA PKP2 PLN PRKAG2 RBM20 RYR2 SCN5A TGFB3 TMEM43 TNNI3 TNNT2 TTN

TTN: Deletion/duplication and sequencing analysis is not offered for exons 153-155 (NM_133378.4). Variants are named relative to the NM_001267550.2 (meta) transcript, but only variants in the coding sequence and intronic boundaries of the clinically relevant NM_133378.4 (N2A) isoform are reported (PMID: 25589632).

Add-on Preliminary-evidence Genes for Arrhythmogenic Cardiomyopathy:
ANKRD1 CTNNA3 LDB3 PDLIM3

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

ANKRD1: Deletion/duplication analysis is not offered for exons 3 or 4.

up to 20 genes

Invitae Brugada Syndrome Panel

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Genetic testing for up to 20 genes that cause Brugada syndrome, an arrhythmia that can cause fainting, seizure-like episodes, or cardiac arrest.

GENES TESTED:

Primary Panel:
ABCC9 CACNA1C CACNB2 GPD1L HCN4 KCNH2 PKP2 SCN5A

Add-on Preliminary-evidence Genes for Brugada Syndrome:
CACNA2D1 KCND3 KCNE3 KCNE5 KCNJ8 RANGRF SCN10A SCN1B SCN2B SCN3B SLMAP TRPM4

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

8 genes

Invitae Catecholaminergic Polymorphic Ventricular Tachycardia Panel

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Genetic testing for 8 genes that cause catecholaminergic polymorphic ventricular tachycardia (CPVT), an arrhythmia that can cause fainting and/or cardiac arrest.

GENES TESTED:

ANK2 CALM1 CALM2 CALM3 CASQ2 KCNJ2 RYR2 TRDN

up to 17 genes

Invitae Long QT Syndrome Panel

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Genetic testing for up to 17 genes that cause longQT syndrome (LQTS), an arrhythmia that can cause fainting, seizure-like episodes, or cardiac arrest.

GENES TESTED:

Primary Panel:
ANK2 CACNA1C CALM1 CALM2 CALM3 CAV3 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A TRDN

Add-on Preliminary-evidence Genes for Long QT Syndrome:
AKAP9 KCNJ5 SCN4B SNTA1

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 6 genes

Invitae Short QT Syndrome Panel

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Genetic testing for up to 6 genes that cause short QT syndrome (SQTS), an arrhythmia that can cause fainting, seizure-like episodes, or cardiac arrest.

GENES TESTED:

Primary Panel:
CACNA1C CACNB2 KCNH2 KCNJ2 KCNQ1

Add-on Preliminary-evidence Gene for Short QT Syndrome:
CACNA2D1

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 105 genes

Invitae Cardiomyopathy Comprehensive Panel

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Genetic testing for up to 105 genes that cause inherited cardiomyopathy, including arrhythmogenic right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction (LVNC), and some syndromic causes of cardiomyopathy.

GENES TESTED:

Primary Panel:
ABCC9 ACTC1 ACTN2 AGL BAG3 CACNA1C CAV3 CRYAB CSRP3 DES DMD DOLK DSC2 DSG2 DSP EMD EYA4 FHL1 FKRP FKTN FLNC GAA GLA HCN4 JUP LAMP2 LMNA MYBPC3 MYH7 MYL2 MYL3 PKP2 PLN PRKAG2 RAF1 RBM20 RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TGFB3 TMEM43 TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL

DMD: Analysis guarantees del/dup detection at single-exon resolution.
FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T as well as the 3 kb retrotransposon insertion in the 3' UTR at c.*4287_*4288ins3062.
GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.
MYBPC3: Analysis includes the intronic variant NM_000256.3:c.3628-41_3628-17del25.
TTN: Deletion/duplication and sequencing analysis is not offered for exons 153-155 (NM_133378.4). Variants are named relative to the NM_001267550.2 (meta) transcript, but only variants in the coding sequence and intronic boundaries of the clinically relevant NM_133378.4 (N2A) isoform are reported (PMID: 25589632).

Add-on Preliminary-evidence Genes for Cardiomyopathy:
ANKRD1 CALR3 CHRM2 CTF1 CTNNA3 DTNA FHL2 GATA4 GATA6 GATAD1 ILK JPH2 LAMA4 LDB3 LRRC10 MYH6 MYLK2 MYOM1 MYOZ2 MYPN NEBL NEXN NKX2-5 NPPA PDLIM3 PLEKHM2 PRDM16 TMPO TXNRD2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

ANKRD1: Deletion/duplication analysis is not offered for exons 3 or 4.

Add-on RASopathy Genes:
A2ML1 BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11 RASA1 RIT1 RRAS SHOC2 SOS1 SOS2 SPRED1

Structural heart defects or hypertrophic cardiomyopathy are also a common feature of RASopathy conditions. Clinicians can also choose to include genes associated with RASopathy conditions when placing their order at no additional charge.

Add-on Autosomal Recessive Syndromic Pediatric Cardiomyopathy Genes:
ACADVL ALMS1 CPT2 DNAJC19 ELAC2 MTO1 SDHA TMEM70

Genes associated with early-onset cardiomyopathy as part of an autosomal recessive disorder may be included at no additional charge. Clinicians may wish to include these genes for patients who present in infancy or early childhood with clinical features of a multi-system disorder.

SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.

up to 23 genes

Invitae Arrhythmogenic Cardiomyopathy Panel

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Genetic testing for up to 23 genes that cause arrhythmogenic cardiomyopathy, including ARVC and arrhythmogenic forms of DCM and HCM.

GENES TESTED:

Primary Panel:
ACTN2 DES DSC2 DSG2 DSP EMD JUP LMNA PKP2 PLN PRKAG2 RBM20 RYR2 SCN5A TGFB3 TMEM43 TNNI3 TNNT2 TTN

TTN: Deletion/duplication and sequencing analysis is not offered for exons 153-155 (NM_133378.4). Variants are named relative to the NM_001267550.2 (meta) transcript, but only variants in the coding sequence and intronic boundaries of the clinically relevant NM_133378.4 (N2A) isoform are reported (PMID: 25589632).

Add-on Preliminary-evidence Genes for Arrhythmogenic Cardiomyopathy:
ANKRD1 CTNNA3 LDB3 PDLIM3

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

ANKRD1: Deletion/duplication analysis is not offered for exons 3 or 4.

up to 69 genes

Invitae Dilated Cardiomyopathy Panel

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Genetic testing for up to 69 genes that cause dilated cardiomyopathy (DCM), a cardiomyopathy that can cause chest pain, heart failure, arrhythmia or stroke.

GENES TESTED:

Primary Panel:
ABCC9 ACTC1 ACTN2 BAG3 CAV3 CRYAB CSRP3 DES DMD DOLK DSC2 DSG2 DSP EMD EYA4 FKRP FKTN FLNC JUP LAMP2 LMNA MYBPC3 MYH7 PKP2 PLN RAF1 RBM20 RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TMEM43 TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL

DMD: Analysis guarantees del/dup detection at single-exon resolution.
FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T as well as the 3 kb retrotransposon insertion in the 3' UTR at c.*4287_*4288ins3062.
MYBPC3: Analysis includes the intronic variant NM_000256.3:c.3628-41_3628-17del25.
TTN: Deletion/duplication and sequencing analysis is not offered for exons 153-155 (NM_133378.4). Variants are named relative to the NM_001267550.2 (meta) transcript, but only variants in the coding sequence and intronic boundaries of the clinically relevant NM_133378.4 (N2A) isoform are reported (PMID: 25589632).

Add-on Preliminary-evidence Genes for Dilated Cardiomyopathy:
ANKRD1 CHRM2 CTF1 FHL2 GATA4 GATA6 GATAD1 ILK LAMA4 LDB3 LRRC10 MYH6 MYPN NEBL NEXN NKX2-5 NPPA PDLIM3 PLEKHM2 PRDM16 TMPO TXNRD2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

ANKRD1: Deletion/duplication analysis is not offered for exons 3 or 4.

Add-on Autosomal Recessive Syndromic Pediatric Cardiomyopathy Genes:
ACADVL ALMS1 CPT2 DNAJC19 SDHA TMEM70

Genes associated with early-onset cardiomyopathy as part of an autosomal recessive disorder may be included at no additional charge. Clinicians may wish to include these genes for patients who present in infancy or early childhood with clinical features of a multi-system disorder. Please note, SDHA is included due to its association with autosomal recessive mitochondrial complex II deficiency. However, SDHA is most commonly associated with autosomal dominant predisposition to cancer.

SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.

up to 60 genes

Invitae Hypertrophic Cardiomyopathy Panel

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Genetic testing for up to 60 genes that cause hypertrophic cardiomyopathy (HCM), a cardiomyopathy that can cause chest pain, heart failure, or cardiac arrest.

GENES TESTED:

Primary Panel:
ACTC1 ACTN2 AGL BAG3 CACNA1C CAV3 CSRP3 DES FHL1 FLNC GAA GLA LAMP2 MYBPC3 MYH7 MYL2 MYL3 PLN PRKAG2 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTR VCL

GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.
MYBPC3: Analysis includes the intronic variant NM_000256.3:c.3628-41_3628-17del25.

Add-on Preliminary-evidence Genes for Hypertrophic Cardiomyopathy:
ANKRD1 CALR3 GATA4 JPH2 LDB3 MYH6 MYLK2 MYOM1 MYOZ2 MYPN NEXN PDLIM3

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

ANKRD1: Deletion/duplication analysis is not offered for exons 3 or 4.

Add-on RASopathy Genes:
A2ML1 BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11 RAF1 RASA1 RIT1 RRAS SHOC2 SOS1 SOS2 SPRED1

Structural heart defects or hypertrophic cardiomyopathy are also a common feature of RASopathy conditions. Clinicians can also choose to include genes associated with RASopathy conditions when placing their order at no additional charge.

Add-on Autosomal Recessive Syndromic Pediatric Cardiomyopathy Genes:
ACADVL CPT2 ELAC2 MTO1

Genes associated with early-onset cardiomyopathy as part of an autosomal recessive disorder may be included at no additional charge. Clinicians may wish to include these genes for patients who present in infancy or early childhood with clinical features of a multi-system disorder.

up to 19 genes

Invitae Left Ventricular Noncompaction Panel

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Genetic testing for up to 19 genes that cause left ventricular noncompaction (LVNC), a cardiomyopathy causing excessive trabeculations, arrhythmia, and/or heart failure.

GENES TESTED:

Primary Panel:
ACTC1 DSP HCN4 LAMP2 LMNA MYBPC3 MYH7 PLN RYR2 SCN5A TAZ TNNI3 TNNT2 TPM1 VCL

MYBPC3: Analysis includes the intronic variant NM_000256.3:c.3628-41_3628-17del25.

Add-on Preliminary-evidence Genes for Left Ventricular Noncompaction:
DTNA LDB3 PLEKHM2 PRDM16

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

1 gene

Invitae Transthyretin Amyloidosis Test

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Genetic testing for the gene TTR which causes transthyretin amyloidosis, a progressive neuropathy featuring cardiomyopathy, nephropathy, or vitreous opacities.

GENES TESTED:

TTR

5 genes

Invitae Hereditary Hemochromatosis Panel

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Genetic testing for 5 genes associated with hereditary hemochromatosis (HH), a genetic disorder that causes increased iron absorption and can lead to iron overload.

GENES TESTED:

HAMP HFE HFE2 SLC40A1 TFR2

18 genes

Invitae RASopathies Comprehensive Panel

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Genetic testing for 18 genes that are associated with RASopathies (also known as Noonan spectrum disorders)—a class of pediatric disorders whose spectrum of symptoms include distinctive facial features, heart defects, developmental delay, and an increased risk of malignancies.

GENES TESTED:

A2ML1 BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11 RAF1 RASA1 RIT1 RRAS SHOC2 SOS1 SOS2 SPRED1

up to 158 genes

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel

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Genetic testing for up to 158 genes that are known to be associated with either cardiomyopathy or skeletal myopathy.

GENES TESTED:

Primary Panel:
ABCC9 ACTA1 ACTC1 ACTN2 AGL ANO5 ATP2A1 B3GALNT2 B4GAT1 BAG3 BIN1 CACNA1C CAPN3 CAV3 CCDC78 CFL2 CHKB CNTN1 COL6A1 COL6A2 COL6A3 CPT2 CRYAB CSRP3 DAG1 DES DMD DNAJB6 DNM2 DOLK DPM1 DPM2 DPM3 DSC2 DSG2 DSP DYSF EMD EYA4 FHL1 FKBP14 FKRP FKTN FLNC GAA GLA GMPPB GNE HCN4 ISPD ITGA7 JUP KBTBD13 KLHL40 KLHL41 LAMA2 LAMP2 LARGE LMNA LMOD3 MATR3 MEGF10 MTM1 MYBPC3 MYH7 MYL2 MYL3 MYOT NEB PKP2 PLEC PLN PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRKAG2 RAF1 RBM20 RYR1 RYR2 SCN5A SEPN1 SGCA SGCB SGCD SGCG SLC22A5 SQSTM1 STAC3 STIM1 TAZ TCAP TGFB3 TIA1 TMEM43 TMEM5 TNNC1 TNNI3 TNNT1 TNNT2 TNPO3 TPM1 TPM2 TPM3 TRAPPC11 TRIM32 TTN TTR VCL VCP

DMD: Analysis guarantees del/dup detection at single-exon resolution.
FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T as well as the 3 kb retrotransposon insertion in the 3' UTR at c.*4287_*4288ins3062.
GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.
MYBPC3: Analysis includes the intronic variant NM_000256.3:c.3628-41_3628-17del25.
NEB: This assay detects the exon 55 deletion found in Ashkenazi Jewish individuals in association with nemaline myopathy. Exons 82-105 contain a large triplicated region. Deletion/duplication analysis excludes this region. Sequence changes in this region can be detected, but this assay cannot determine which of the three repeat units is affected (and zygosity is often ambiguous). All variants in this region are reported relative to the exon 82-89 repeat.
RYR1: Deletion/duplication analysis is not offered for exons 48 or 49.
SEPN1: Analysis includes the NM_20451.2:c.*1107T>C variant in the 3' UTR.
TTN: Deletion/duplication and sequencing analysis is not offered for exons 153-155 (NM_133378.4). Variants are named relative to the NM_001267550.2 (meta) transcript, but only variants in the coding sequence and intronic boundaries of the clinically relevant NM_133378.4 (N2A) isoform are reported (PMID: 25589632).

Add-on Preliminary-evidence Genes for Cardiomyopathy and Skeletal Muscle Disease:
ANKRD1 CALR3 CHRM2 COL12A1 CTF1 CTNNA3 DTNA FHL2 GATA4 GATA6 GATAD1 HNRNPDL ILK JPH2 LAMA4 LDB3 LIMS2 LRRC10 MYF6 MYH6 MYLK2 MYOM1 MYOZ2 MYPN NEBL NEXN NKX2-5 NPPA PDLIM3 PLEKHM2 PRDM16 SUN1 SUN2 SYNE1 SYNE2 TMPO TOR1AIP1 TXNRD2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

ANKRD1: Deletion/duplication analysis is not offered for exons 3 or 4.

Add-on Autosomal Recessive Syndromic Pediatric Cardiomyopathy Genes:
ACADVL ALMS1 DNAJC19 ELAC2 MTO1 SDHA TMEM70

Genes associated with early-onset cardiomyopathy as part of an autosomal recessive disorder may be included at no additional charge. Clinicians may wish to include these genes for patients who present in infancy or early childhood with clinical features of a multi-system disorder. Please note, SDHA is included due to its association with autosomal recessive mitochondrial complex II deficiency. However, SDHA is most commonly associated with autosomal dominant predisposition to cancer.

SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.

up to 25 genes

Invitae Aortopathy Comprehensive Panel

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Genetic testing for up to 25 genes which cause aortopathy; presenting as isolated thoracic aortic aneurysms and/or dissections (TAAD) or as a syndrome.

GENES TESTED:

Primary Panel:
ACTA2 CBS COL3A1 COL5A1 COL5A2 EFEMP2 FBN1 FBN2 FLNA MED12 MYH11 MYLK NOTCH1 PLOD1 PRKG1 SKI SLC2A10 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2

Add-on Preliminary-evidence Gene for Aortopathy:
MAT2A SMAD6

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

14 genes

Invitae Ehlers-Danlos Syndrome Panel

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Genetic testing for 14 genes which cause Ehlers-Danlos syndrome (EDS) or other conditions that may present with joint hypermobility, connective tissue or bone fragility, and/or aortopathy.

GENES TESTED:

ADAMTS2 ATP7A CHST14 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 CRTAP FKBP14 FLNA P3H1 PLOD1 SLC39A13

up to 6 genes

Invitae Loeys-Dietz Syndrome Panel

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Genetic testing for 4 genes that cause Loeys-Dietz syndrome (LDS), a connective tissue disorder with vascular involvement, 2 genes with clinical overlap can be added.

GENES TESTED:

Primary Panel:
SMAD3 TGFB2 TGFBR1 TGFBR2

Add-on Clinically-overlapping Genes for Loeys-Dietz Syndrome:
FBN1 TGFB3

The clinical presentation of LDS can overlap and be difficult to distinguish from other types of connective tissue conditions and aortopathies. Specifically, there is strong clinical overlap between LDS and the disorders caused by the TGFB3 and FBN1 genes. If clinically indicated, these genes can be added at no additional charge.

1 gene

Invitae Marfan Syndrome Test

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Genetic testing for the gene FBN1 which causes Marfan syndrome, a connective tissue disorder involving the cardiovascular, skeletal, pulmonary, and ocular systems.

GENES TESTED:

FBN1

4 genes

Invitae Familial Hypercholesterolemia Panel

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Genetic testing for 4 genes that cause familial hypercholesterolemia (FH), a hereditary risk factor for premature coronary artery disease.

GENES TESTED:

APOB LDLR LDLRAP1 PCSK9

up to 9 genes

Invitae Pulmonary Arterial Hypertension Panel

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Genetic testing for up to 9 genes which cause pulmonary arterial hypertension (PAH), a hypertension featuring fatigue, palpitations, edema, and heart failure.

GENES TESTED:

Primary Panel:
ACVRL1 BMPR2 CAV1 ENG

Add-on Preliminary-evidence Genes for Pulmonary Arterial Hypertension:
BMPR1B GDF2 KCNA5 KCNK3 SMAD9

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 5 genes

Invitae Hereditary Hemorrhagic Telangiectasia Panel

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Genetic testing for up to 5 genes that cause hereditary hemorrhagic telangiectasia (HHT), a vascular dysplasia resulting in abnormalities of arterial and venous vessels.

GENES TESTED:

Primary Panel:
ACVRL1 ENG RASA1 SMAD4

Add-on Preliminary-evidence Gene for Hereditary Hemorrhagic Telangiectasia:
GDF2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 4 genes

Invitae Capillary Malformation-Arteriovenous Malformation Syndrome Test

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Genetic testing for capillary malformation-arteriovenous malformation (CM-AVM), a vascular disorder characterized by capillary malformations, which generally present at birth, and may also include arteriovenous malformations, arteriovenous fistulas, or Parkes-Weber syndrome.

GENES TESTED:

Primary Panel:
RASA1

Add-on Hereditary Hemorrhagic Telangiectasia Genes:
ACVRL1 ENG SMAD4

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by the presence of multiple arteriovenous malformations (AVMs). Depending on the clinical presentation of the patient, clinicians may wish to include additional genes associated with HHT for no additional charge.

40 genes

Invitae Congenital Heart Disease Panel

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This panel tests 40 genes associated with isolated and syndromic causes of congenital heart disease, including some genes associated with heterotaxy that have specifically been linked to congenital heart defects.

GENES TESTED:

ACTC1 ACVR2B ALMS1 BCOR BRAF CBL CHD7 CRELD1 ELN FOXH1 GATA4 GATA6 GDF1 GJA1 GPC3 HAND1 HRAS JAG1 KRAS LEFTY2 MAP2K1 MAP2K2 MED13L MYH6 NKX2-5 NKX2-6 NODAL NOTCH1 NR2F2 NRAS NSD1 PTPN11 RAF1 RIT1 SHOC2 SMAD6 SOS1 TBX5 ZFPM2 ZIC3

1 gene

Invitae CHARGE Syndrome Test

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Genetic testing for CHD7, the gene associated with CHARGE syndrome. CHARGE syndrome is characterized by coloboma, heart defect, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies.

GENES TESTED:

CHD7

1 gene

Invitae Holt-Oram Syndrome Test

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Genetic testing for TBX5, which is the primary gene associated with Holt-Oram syndrome (HOS), a disorder characterized by upper-limb abnormalities and heart defects.

GENES TESTED:

TBX5

18 genes

Invitae RASopathies Comprehensive Panel

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Genetic testing for 18 genes that are associated with RASopathies (also known as Noonan spectrum disorders)—a class of pediatric disorders whose spectrum of symptoms include distinctive facial features, heart defects, developmental delay, and an increased risk of malignancies.

GENES TESTED:

A2ML1 BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11 RAF1 RASA1 RIT1 RRAS SHOC2 SOS1 SOS2 SPRED1

1 gene

Invitae Sotos Syndrome Test

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Genetic testing for NSD1, the primary gene associated with Sotos syndrome; characterized by distinct facial features, excessive growth during childhood, macrocephaly, and mild-to-severe learning disability.

GENES TESTED:

NSD1

Gene
A
Synonym(s): CPAMD9

The A2ML1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Noonan syndrome (OMIM# 610627; PMID: 24939586).

The ABCC9 gene is associated with autosomal dominant Cantu syndrome (MedGen UID: 208647), dilated cardiomyopathy (DCM) (MedGen UID: 325268), Brugada syndrome (BrS) (PMID: 24439875), and atrial fibrillation (MedGen UID: 481325).

The ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 87459).

Synonym(s): ACTA

The ACTA1 gene is associated with autosomal dominant and recessive nemaline myopathy 3 (NEM3) (MedGen UID: 371799) and autosomal dominant congenital fiber-type disproportion (CFTD) (MedGen UID: 108177). Other ACTA1-related disorders have also been reported (OMIM: 102610).

The ACTA2 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 435866). Other ACTA2-related conditions have been reported (OMIM: 102620).

Synonym(s): ACTC; ASD5; CMD1R; CMH11; LVNC4

The ACTC1 gene is associated with autosomal dominant atrial septal defects (ASD) (MedGen UID: 412580), hypertrophic cardiomyopathy (HCM) (MedGen UID: 436962), dilated cardiomyopathy (DCM) (MedGen UID: 462031) and left ventricular noncompaction (LVNC) (MedGen UID: 349005).

The ACTN2 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) with or without left ventricular noncompaction (LVNC) (MedGen UID: 393713) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649).

Synonym(s): ACTRIIB; ActR-IIB; HTX4

The ACVR2B gene is associated with autosomal dominant heterotaxy, type 4 (MedGen UID: 462407).

Synonym(s): ACVRLK1; ORW2

The ACVRL1 gene is associated with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 324960) and pulmonary hypertension (MedGen UID: 57749).

The ADAMTS2 gene is associated with autosomal recessive Ehlers-Danlos syndrome type VIIC (EDS VIIC) (MedGen UID: 397792).

AGL
Synonym(s): GDE

The AGL gene is associated with autosomal recessive glycogen storage disease type III (GSD III) (MedGen UID: 6641).

Synonym(s): AKAP350; AKAP450; CG-NAP; HYPERION; LQT11; MU-RMS-40.16A; PPP1R45; PRKA9

The AKAP9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant long QT syndrome (LQTS), type 11 (MedGen UID: 437218).

Synonym(s): ALSS

The ALMS1 gene is associated with autosomal recessive Alstrom syndrome (MedGen UID: 78675).

Synonym(s): LQT4

The ANK2 gene is associated with autosomal dominant long QT syndrome (LQTS) type 4 (MedGen UID: 331449). Other ANK2-related conditions have been reported (OMIM: 106410).

The ANKRD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880) and hypertrophic cardiomyopathy (HCM) (PMID: 19608031).

Synonym(s): GDD1; LGMD2L; TMEM16E

The ANO5 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2L (LGDM2L) (MedGen UID: 370102) and Miyoshi muscular dystrophy 3 (MMD3) (MedGen UID: 413750). It is also associated with autosomal dominant gnathodiaphyseal dysplasia (GDD) (MedGen UID: 331575).

The APOB gene is associated with autosomal dominant familial hypercholesterolemia (FH) (MedGen UID: 309962) and familial hypobetalipoproteinemia (FHBL) (MedGen UID: 775747). Generally the presence of two pathogenic variants for either condition is associated with severe forms commonly referred to as homozygous FH (HoFH) (MedGen UID: 468437) and homozygous FHBL (Ho-FHBL), respectively.

The ATP2A1 gene is associated with autosomal recessive Brody myopathy (MedGen UID: 371441).

Synonym(s): MNK

The ATP7A gene is associated with X-linked Menkes disease (MedGen UID: 44030), occipital horn syndrome (OHS) (MedGen UID: 82793) and distal hereditary motor neuropathy (HMN) (MedGen UID: 335168).

B

The B3GALNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A11 (MDDGA11) (MedGen UID: 767552).

Synonym(s): B3GNT1; B3GNT6

The B4GAT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A13 (MDDGA13) (MedGen UID: 815372).

The BAG3 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 462643) and myofibrillar myopathy 6 (MFM6) (MedGen UID: 414119).

Synonym(s): ANOP2; MAA2; MCOPS2

The BCOR gene is associated with X-linked dominant oculofaciocardiodental (OFCD) syndrome (MedGen UID: 337547). Additionally, the BCOR gene has preliminary evidence supporting a correlation with X-linked recessive Lenz microphthalmia syndrome (PubMed: 26694549).

Synonym(s): AMPHL

The BIN1 gene is associated with autosomal recessive centronuclear myopathy 2 (CNM2) (MedGen UID: 98049). Dominant inheritance has also been reported (PMID: 25260562).

The BMPR1B gene is associated with autosomal recessive acromesomelic dysplasia (MedGen UID: 324453). Additionally, the BMPR1B gene has preliminary evidence supporting a correlation with autosomal dominant brachydactyly (MedGen UID: 318690) and pulmonary arterial hypertension (MedGen UID: 57749).

Synonym(s): PPH1

The BMPR2 gene is associated with autosomal dominant pulmonary arterial hypertension (PAH) (MedGen UID: 57749).

Synonym(s): B-RAF1; B-raf; BRAF1; NS7; RAFB1

The BRAF gene is associated with the autosomal dominant Noonan syndrome (MedGen UID: 462320) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 266149).

C
Synonym(s): CCHL1A1; CACNL1A1

The CACNA1C gene is associated with autosomal dominant Timothy syndrome, also known as long QT syndrome (LQTS) type 8 (MedGen UID: 331395), Brugada syndrome (BrS) (MedGen UID: 395633), and short QT syndrome (SQTS) (MedGen UID: 378835).

Synonym(s): CACNL2A; CACNA2; MHS3; LINC01112

The CACNA2D1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 222975) and short QT syndrome (SQTS) (MedGen UID: 378835).

Synonym(s): MYSB; CACNLB2

The CACNB2 gene is associated with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 395632) and short QT syndrome (SQTS) (MedGen UID: 378835).

Synonym(s): CALML2

The CALM1 gene is associated with autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) (MedGen UID: 766961) and long QT syndrome (LQTS) (PMID: 23388215).

The CALM2 gene is associated with autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) and long QT syndrome (LQTS) (PMID: 23388215).

The CALM3 gene is associated with autosomal dominant long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT) (PMID: 25460178).

The CALR3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462616).

Synonym(s): LGMD2; LGMD2A

The CAPN3 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) (MedGen UID: 358391).

The CASQ2 gene is associated with autosomal recessive catecholaminergic polymorphic ventricular tachycardia (CPVT) (MedGen UID: 393837). Additionally, the CASQ2 gene has preliminary evidence supporting a correlation with autosomal dominant CPVT (PMID: 27157848).

Synonym(s): CAV

The CAV1 gene is associated with autosomal dominant pulmonary arterial hypertension (PAH) (MedGen UID: 57749). Other CAV1-related conditions have been reported (OMIM: 601047).

The CAV3 gene is associated with autosomal dominant long QT syndrome type 9 (LQT9) (MedGen UID: 395635) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195). It is also associated with a spectrum of neuromuscular conditions including autosomal dominant hyperCKemia (MedGen UID: 69128) and distal myopathy (MedGen UID: 833809), and autosomal dominant and recessive limb-girdle muscular dystrophy type 1C (LGMD1C) (MedGen UID: 371358) and rippling muscle disease (MedGen UID: 342944), collectively known as the caveolinopathies (MedGen UID: 433151).

CBL
Synonym(s): C-CBL; CBL2; FRA11B; NSLL; RNF55

The CBL gene is associated with autosomal dominant Noonan-like syndrome with or without juvenile myelomonocytic leukemia (MedGen UID 462153).

CBS

The CBS gene is associated with autosomal recessive homocystinuria due to cystathionine beta-synthase (CBS) deficiency (MedGen UID: 461694).

Synonym(s): C16orf25

The CCDC78 gene is associated with autosomal dominant centronuclear myopathy 4 (CNM4) (MedGen UID: 766623).

The CFL2 gene is associated with autosomal recessive nemaline myopathy 7 (NEM7) (MedGen UID: 343979).

Synonym(s): CRG; HH5; IS3; KAL5

The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567).

Synonym(s): CHKL

The CHKB gene is associated with autosomal recessive congenital muscular dystrophy, megaconial type (MDCMC) (MedGen UID: 355943).

The CHRM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 18451336, 23743182).

Synonym(s): D4ST1

CHST14 is associated with autosomal recessive CHST14-congenital disorder of glycosylation, also known as musculocontractural type Ehlers-Danlos syndrome (EDSMC1) (MedGen UID: 356497).

The CNTN1 gene is associated with autosomal recessive Compton-North congenital myopathy (MYPCN) (MedGen UID: 393406).

The COL12A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Bethlem myopathy and autosomal recessive Ullrich congenital muscular dystrophy (PMID: 24334769, 24334604).

Synonym(s): EDSC; OI1; OI2; OI3; OI4

The COL1A1 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246), Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662), and Caffey disease (PMID: 24389367).

Synonym(s): OI4

The COL1A2 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246) and Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662). The COL1A2 gene is also associated with autosomal recessive Ehlers-Danlos syndrome, cardiac valvular form (MedGen UID: 347359).

Synonym(s): EDS4A

The COL3A1 gene is associated with autosomal dominant Ehlers-Danlos syndrome (EDS), vascular type (MedGen UID: 82790).

The COL5A1 gene is associated with autosomal dominant Ehlers-Danlos syndrome (EDS), classical type (MedGen UID: 78660, MedGen UID: 120628).

The COL5A2 gene is associated with autosomal dominant Ehlers-Danlos syndrome (EDS), classical type (MedGen UID: 78660).

The COL6A1 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 331805) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 98046), collectively known as type VI collagenopathies (MedGen UID: 468393).

The COL6A2 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 331805) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 98046), collectively known as type VI collagenopathies (MedGen UID: 468393). Other COL6A2-related disorders have also been reported (OMIM: 120240).

The COL6A3 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 331805) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 98046), collectively known as type VI collagenopathies (MedGen UID: 468393). Other COL6A3-related disorders have also been reported (OMIM: 120250).

The CPT2 gene is associated with autosomal recessive carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (MedGen UID: 371584, 322211, 318896).

Synonym(s): AVSD2; CIRRIN

The CRELD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrioventricular septal defects (PMID: 15857420, 21080147).

Synonym(s): CASP; LEPREL3; OI7; P3H5

The CRTAP gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 343981).

Synonym(s): CMD1II; CRYA2; CTPP2; CTRCT16; HEL-S-101; HSPB5; MFM2

The CRYAB gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 767563) and cataracts (MedGen UID: 462415). It is also associated with autosomal dominant and recessive myofibrillar myopathy 2 (MFM2) (MedGen UID: 324735).

The CSRP3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 429755) and dilated cardiomyopathy (DCM) (MedGen UID: 334498).

The CTF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 11058912).

The CTNNA3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 816468).

D
Synonym(s): DAG

The DAG1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A9 (MDDGA9) (MedGen UID: 851332) and type C9 (MDDGC9) (MedGen UID: 462534).

Synonym(s): DEP.5; FFEVF

The DEPDC5 gene is associated with autosomal dominant familial focal epilepsy with variable foci (FFEVF) (MedGen UID: 348951) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (MedGEN UID: 432738).

DES

The DES gene is associated with autosomal dominant and recessive myofibrillar myopathy 1 (MFM1) (MedGen UID: 330449). It is also associated with autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R)(MedGen UID: 815467) and autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 387998).

DMD

The DMD gene is associated with X-linked Duchenne muscular dystrophy (DMD) (MedGen UID: 3925), Becker muscular dystrophy (BMD) (MedGen UID: 182959), and dilated cardiomyopathy (DCM) (MedGen UID: 777148).

Synonym(s): LGMD1D

The DNAJB6 gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E), also known as LGMD1D (MedGen UID: 460114) and distal myopathy (PMID: 26205529).

The DNAJC19 gene is associated with autosomal recessive 3-methylglutaconic aciduria, type V (MedGen UID: 347542).

The DNM2 gene is associated with autosomal dominant centronuclear myopathy (DNM2-CNM) (MedGen UID: 322437), dominant intermediate Charcot-Marie-Tooth disease type B (CMTDIB) (MedGen UID: 338346) and Charcot-Marie-Tooth disease type 2M (CMT2M) (OMIM: 606482). Additionally, the DNM2 gene has preliminary evidence supporting a correlation with autosomal recessive lethal congenital contracture syndrome (LCCS5) (MedGen UID: 344338).

Synonym(s): TMEM15

DOLK is associated with autosomal recessive DOLK-congenital disorder of glycosylation (CDG-Im) (MedGen UID: 332072).

The DPM1 gene is associated with autosomal recessive DPM1-congenital disorder of glycosylation (CDG-Ie) (MedGen UID: 324784).

The DPM2 gene is associated with autosomal recessive DPM2-congenital disorder of glycosylation (CDG-Iu) (MedGen UID: 767299).

The DPM3 gene is associated with autosomal recessive DPM3-congenital disorder of glycosylation (CDG-Io) (MedGen UID: 414534).

Synonym(s): DSC3

The DSC2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 351237) and autosomal recessive ARVC with palmoplantar keratoderma and woolly hair (OMIM: 125645).

The DSG2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 347543) and dilated cardiomyopathy (DCM) (MedGen UID: 414552).

DSP

The DSP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 336069) and dilated cardiomyopathy (DCM) with woolly hair, keratoderma and tooth agenesis (MedGen UID: 808093), as well as autosomal recessive DCM with woolly hair and keratoderma (MedGen UID: 340124). Additional DSP-related conditions have been reported (OMIM: 125647).

The DTNA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (LVNC) (MedGen UID: 349005).

Synonym(s): LGMD2B

The DYSF gene is associated with autosomal recessive Miyoshi muscular dystrophy type 1 (MMD1) (MedGen UID: 338128) and limb-girdle muscular dystrophy type 2B (LGMD2B) (MedGen UID: 338149), collectively known as the dysferlinopathies (MedGen UID: 419874). Other DYSF-related conditions have also been reported (OMIM: 606768).

E
Synonym(s): FBLN4

The EFEMP2 gene is associated with autosomal recessive cutis laxa type 1B (ARCL1B) (MedGen UID: 482428) and thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 468423).

The ELAC2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency (MedGen UID: 322999).

ELN
Synonym(s): SVAS; WBS; WS

The ELN gene is associated with autosomal dominant supravalvar aortic stenosis (SVAS) (MedGen UID: 2001), autosomal dominant cutis laxa (MedGen UID: 120630), and is one of the genes commonly deleted in the microdeletion associated with Williams syndrome (WS) (MedGen UID: 59799).

EMD

The EMD gene is associated with X-linked Emery-Dreifuss muscular dystrophy (EDMD) (MedGen UID: 148284).

ENG
Synonym(s): ORW1; ORW

The ENG gene is associated with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 52657) and hereditary pulmonary arterial hypertension (PAH) (MedGen UID: 57749). Additionally, the ENG gene has preliminary evidence supporting a correlation with autosomal dominant juvenile polyposis syndrome (JPS) (PMID: 16287957, 23399955).

Synonym(s): DFNA10; CMD1J

The EYA4 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) with hearing loss (MedGen UID: 343105). Additional EYA4-related conditions have been reported (OMIM: 603550).

F
Synonym(s): FBN; MFS1; WMS

The FBN1 gene is associated with autosomal dominant Marfan syndrome (MedGen UID: 44287), MASS syndrome (MedGen UID: 346932), thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 468423), isolated ectopia lentis (MedGen UID: 342716), and stiff skin syndrome (MedGen UID: 348877). Other FBN1-related conditions have been reported (OMIM: 134797).

Synonym(s): CCA

The FBN2 gene is associated with autosomal dominant congenital contractural arachnodactyly (MedGen UID: 67391).

Synonym(s): FHL1A

The FHL1 gene is associated with X-linked Emery-Dreifuss muscular dystrophy type 6 (EDMD6) (MedGen UID: 395525), reducing body myopathies (RBM) (MedGen UIDs: 394710, 394714) and hypertrophic cardiomyopathy (PMID: 24114807). Other FHL1-related conditions have been reported (OMIM: 300163).

The FHL2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (PMID: 25358972).

The FKBP14 gene is associated with autosomal recessive Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) (MedGen UID: 482790).

Synonym(s): MDC1C; LGMD2I; MDDGA5; MDDGB5; MDDGC5

The FKRP gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A5 (MDDGA5) (MedGen UID:461763), type B5 (MDDGB5) (MedGen UID:335764), and type C5 (MDDGC5) (MedGen UID:339580), and dilated cardiomyopathy (DCM) (MedGen UID:2880).

Synonym(s): FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4

The FKTN gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A4 (MDDGA4), also known as Fukuyama congenital muscular dystrophy (FCMD) (MedGen UID: 140820), type B4 (MDDGB4) (MedGen UID: 413465) and type C4 (MDDGC4) (MedGen UID: 370585), and dilated cardiomyopathy (DCM) (MedGen UID: 370583).

Synonym(s): FLN1; FLN; OPD2; OPD1

The FLNA gene is associated with X-linked Ehlers-Danlos syndrome (EDS) with periventricular heterotopia (MedGen UID: 375610) and cardiac vavlular dysplasia (MedGen UID: 78083). Other FLNA-related conditions have also been reported (OMIM: 300017).

Synonym(s): FLN2

The FLNC gene is associated with autosomal dominant myofibrillar myopathy 5 (MFM5) (MedGen UID: 372186), distal myopathy 4 (MPD4) (MedGen UID: 481352), and dilated cardiomyopathy (PMID: 25633252, 27908349). Additionally, the FLNC gene has preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (PMID: 25351925) and restrictive cardiomyopathy (PMID: 26666891).

Synonym(s): FAST-1; FAST1

FOXH1 is associated with autosomal dominant heterotaxy, which includes congenital heart disease such as tetralogy of Fallot, as well as extracardiac laterality defects (PMID: 18538293). Additionally, the FOXH1 gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214; PMID: 18538293).

G
GAA

The GAA gene is associated with autosomal recessive glycogen storage disease type II (GSDII), also known as Pompe disease (MedGen UID: 5340).

Synonym(s): ASD2; TACHD; TOF; VSD1

The GATA4 gene is associated with a spectrum of congenital heart defects including autosomal dominant tetralogy of Fallot (MedGen UID: 21498), ventricular septal defects (MedGen UID: 482407), atrial septal defects (MedGen UID: 334249), atrioventricular septal defects (MedGen UID: 482411). Additionally, the GATA4 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 24041700).

The GATA6 gene has preliminary evidence supporting a correlation with autosomal dominant tetralogy of Fallot (MedGen UID: 21498), atrial septal defects (MedGen UID: 482573), atrioventricular septal defects (MedGen UID: 482569), persistent truncus arteriosus (MIM: 217095), congenital heart defects with pancreatic agenesis (MIM: 600001), and dilated cardiomyopathy (DCM) (PMID: 25119427).

The GATAD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dilated cardiomyopathy (DCM) (MedGen UID: 766323).

Synonym(s): DORV; DTGA3; RAI

The GDF1 gene is associated with autosomal recessive heterotaxy (PMID: 20413652). Additionally, the GDF gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart defects (PMID: 17924340).

The GDF2 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 507345) and pulmonary arterial hypertension (PAH) (PMID: 26801773).

Synonym(s): AVSD3; CMDR; CX43; EKVP; GJAL; HLHS1; HSS; ODDD; PPKCA

The GJA1 gene is associated with autosomal dominant forms of hypoplastic left heart syndrome (MedGen UID: 57746), atrioventricular septal defect (MedGen UID: 342900), oculodentodigital dysplasia (MedGen UID: 167236), and syndactyly type 3 (MedGen UID: 396117), as well as autosomal recessive craniometaphyseal dysplasia (MedGen UID: 387837).

The GJA5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrial standstill (MedGen UID: 333120), atrial fibrillation (MedGen UID: 481323), and tetrology of Fallot (PMID: 22713807).

GLA

The GLA gene is associated with X-linked Fabry disease (MedGen UID: 8083).

The GMPPB gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A14 (MDDGA14) (MedGen UID: 815546), type B14 (MDDGB14) (MedGen UID: 815551) and type C14 (MDDGC14) (MedGen UID: 811507). Additionally, the GMPPB gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome (CMS) (PMID: 26133662).

GNE
Synonym(s): IBM2

The GNE gene is associated with autosomal recessive GNE-related myopathy (MedGen UID: 322174) and autosomal dominant sialuria (MedGen UID: 137980).

Synonym(s): DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS; SGBS1

The GPC3 gene is associated with X-linked recessive Simpson-Golabi-Behmel syndrome (MedGen UID: 162917).

The GPD1L gene is associated with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 382031).

H

The HAMP gene is associated with autosomal recessive hemochromatosis (type 2B) (aka juvenile hemochromatosis) (MedGen UID: 356040).

Synonym(s): Hxt; Thing1; bHLHa27; eHand

The HAND1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypoplastic left heart syndrome, atrioventricular septal defects and ventricular septal defects (PMID: 19586923, 18276607, 22032825).

The HCN4 gene is associated with autosomal dominant left ventricular noncompaction (LVNC) (PMID: 25145517), Brugada syndrome (BrS) (MedGen UID: 413928), and sinus node dysfunction or bradycardia (MedGen UID: 320273).

HFE

The HFE gene is associated with autosomal recessive hereditary hemochromatosis (HH) (MedGen UID: 140272).

The HFE2 gene is associated with autosomal recessive hemochromatosis type 2A (aka juvenile hemochromatosis) (MedGen UID: 356321).

The HNRNPDL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant limb-girdle muscular dystrophy (LGMD) (PMID: 24647604).

Synonym(s): C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO; H-RASIDX; HAMSV; HRAS1; p21ras; RASH1

The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454). Other HRAS-related conditions have been reported (OMIM).

I
ILK

The ILK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 17646580).

The ISPD gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A7 (MDDGA7) (MedGen UID: 766244) and type C7 (MDDGC7) (MedGen UID: 807556).

The ITGA7 gene is associated with autosomal recessive congenital muscular dystrophy due to integrin alpha-7 deficiency (MedGen UID: 413044).

J
Synonym(s): AGS; AHD; AWS; CD339; HJ1; JAGL1

The JAG1 gene is associated with autosomal dominant Alagille syndrome (MedGen UID: 365434) and tetralogy of Fallot (MedGen UID: 21498).

The JPH2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462614).

JUP
Synonym(s): CTNNG

The JUP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 409749) and autosomal recessive Naxos disease (MedGen UID: 321991).

K

The KBTBD13 gene is associated with autosomal dominant nemaline myopathy 6 (NEM6) (MedGen UID: 373095).

The KCNA5 gene is associated with autosomal dominant atrial fibrillation (MedGen UID: 393658). Additionally, the KCNA5 gene has preliminary evidence supporting a correlation with autosomal dominant pulmonary arterial hypertension (PAH) (PMID: 24936649).

Synonym(s): SCA22; SCA19

The KCND3 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 22840528) and atrial fibrillation (PMID: 23400760). Other KCND3-related condtions have been reported (OMIM: 605411).

The KCNE1 gene is associated with autosomal dominant long QT syndrome (LQTS) type 5 (MedGen UID: 358092) and autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS) (MedGen UID: 394108).

The KCNE2 gene is associated with autosomal dominant long QT syndrome (LQTS), type 6 (MedGen UID: 462303). Additionally, the KCNE2 gene has preliminary evidence supporting a correlation with autosomal dominant atrial fibrillation (Pubmed ID: 15368194).

The KCNE3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 413473) and atrial fibrillation (PMID: 18209471).

Synonym(s): KCNE1L

The KCNE5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked Brugada syndrome (BrS) (PMID: 21493962) and atrial fibrillation (PMID: 18313602).

Synonym(s): ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1; LQT2; SQT1

The KCNH2 gene is associated with autosomal dominant long QT syndrome (LQTS), type 2 (MedGen UID: 462293), short QT syndrome (SQTS) (MedGen UID: 355891) and Brugada syndrome (BrS) (MedGen UID: 222975).

The KCNJ2 gene is associated with autosomal dominant Andersen-Tawil syndrome, also known as long QT syndrome (LQTS), type 7 (MedGen UID: 327586), short QT syndrome (SQTS) (MedGen UID: 400662), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (PMID: 22589293). Additionally, the KCNJ2 gene has preliminary evidence supporting a correlation with autosomal dominant atrial fibrillation (MedGen UID: 462781).

The KCNJ5 gene is associated with autosomal dominant familial hyperaldosteronism (MedGen UID: 462283). Additionally, the KCNJ5 gene has preliminary evidence supporting a correlation with autosomal dominant long QT syndrome (LQTS), type 13 (MedGen UID: 462083).

The KCNJ8 gene is associated with autosomal dominant Cantu syndrome (MedGen UID: 208647). Additionally, the KCNJ8 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 22840528).

The KCNK3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant pulmonary arterial hypertension (PAH).

Synonym(s): LQT; KCNA9

The KCNQ1 gene is associated with autosomal dominant long QT syndrome (LQTS) type 1 (MedGen UID: 19831), atrial fibrillation (MedGen UID: 373232), short QT syndrome (SQTS) (MedGen UID: 355890), and autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS) (MedGen UID: 5929).

Synonym(s): BFNC; EBN; EBN1; ENB1; HNSPC; KCNA11; KV7.2

The KCNQ2 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 342266) and early infantile epileptic encephalopathy (MedGen UID: 462336).

Synonym(s): BFNC2; EBN2; KV7.3

The KCNQ3 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 377707).

Synonym(s): EIEE14; ENFL5; KCa4.1; SLACK; Slo2.2; bA100C15.2

The KCNT1 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 767220) and early infantile epileptic encephalopathy (MedGen UID: 767109).

Synonym(s): KBTBD5

The KLHL40 gene is associated with autosomal recessive nemaline myopathy 8 (NEM8) (MedGen UID: 815539).

Synonym(s): KBTBD10

The KLHL41 gene is associated with autosomal recessive nemaline myopathy 9 (NEM9) (MedGen UID: 816714).

Synonym(s): C-K-RAS; CFC2; K-RAS2A; K-RAS2B; K-RAS4A; K-RAS4B; KI-RAS; KRAS1; KRAS2; NS; NS3; RALD; RASK2; c-Ki-ras2

The KRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 349931) and cardiofaciocutaneous (CFC) syndrome (MedGen UID: 501102). Other KRAS-related conditions have been reported (OMIM).

L
Synonym(s): LAMM

The LAMA2 gene is associated with autosomal recessive LAMA2-related muscular dystrophy (MDC1A) (MedGen UID: 224728).

The LAMA4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 815265).

The LAMP2 gene is associated with X-linked Danon disease (MedGen UID: 209235).

The LARGE gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A6 (MDDGA6) (MedGen UID: 461764) and type B6 (MDDGB6) (MedGen UID: 373284).

Synonym(s): CMD1C; ZASP

The LDB3 gene is associated with autosomal dominant myofibrillar myopathy 4 (MFM4) (MedGen UID: 322840). Additionally, the LDB3 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880) and left ventricular noncompaction (LVNC) (MedGen UID: 349005).

The LDLR gene is associated with autosomal dominant familial hypercholesterolemia (FH) (MedGen UID: 5688). Generally, the presence of two pathogenic variants is associated with a severe form of FH commonly referred to as homozygous FH (HoFH) (MedGen UID: 468437).

The LDLRAP1 gene is associated with autosomal recessive hypercholesterolemia (MedGen UID: 400313).

Synonym(s): EBAF; LEFTA; LEFTYA; TGFB4

The LEFTY2 gene is associated with autosomal dominant left-right axis malformations (also called LEFTY2-related heterotaxy; MedGen UID: 355624).

The LIMS2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive limb-girdle muscular dystrophy (PMID: 25589244).

Synonym(s): LMN1; CMD1A; LGMD1B; PRO1; LMNL1

The LMNA gene is associated with a diverse group of disorders affecting skeletal and cardiac muscle including autosomal recessive and dominant Emery-Dreifuss muscular dystrophy type 2 (EDMD2) (MedGen UID: 98048) and type 3 (EDMD3) (MedGen UID: 413212), autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) (MedGen UID: 320400), congenital muscular dystrophy (MedGen UID: 413043), and dilated cardiomyopathy (DCM) (MedGen UID: 258500). It is also associated with autosomal recessive Charcot-Marie-Tooth disease type 2B1 (CMT2B1) (MedGen UID: 343064). Additional LMNA-related conditions have also been reported (OMIM: 150330).

The LMOD3 gene is associated with autosomal recessive nemaline myopathy 10 (NEM10) (MedGen UID: 830573).

The LRRC10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 26017719).

M
Synonym(s): CFC3; MAPKK1; MEK1; MKK1; PRKMK1

The MAP2K1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501103).

Synonym(s): CFC4; MAPKK2; MEK2; MKK2; PRKMK2

The MAP2K2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501103).

The MAT2A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant thoracic aortic aneurysms (PMID: 25557781).

Synonym(s): MPD2

The MATR3 gene is associated with autosomal dominant distal myopathy 2 (MPD2, also known as vocal cord and pharyngeal dysfunction with distal myopathy (MedGen UID: 342950). Additionally, the MATR3 gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 21 (ALS21) (PMID: 25771394, 26493020).

Synonym(s): ARC240; CAGH45; FGS1; HOPA; MED12S; OHDOX; OKS; OPA1; TNRC11; TRAP230

The MED12 gene is associated with X-linked recessive Lujan-Fryns syndrome (LFS) (MedGen UID: 167096), Opitz-Kaveggia syndrome (OKS) (MedGen UID: 113106), and Ohdo syndrome (MedGen UID: 785805). Additionally, the MED12 gene has preliminary evidence supporting a correlation with X-linked recessive intellectual disability (ID) (PMID: 26273451, 25644381).

Synonym(s): MRFACD; PROSIT240; THRAP2; TRAP240L

The MED13L gene is associated with autosomal dominant transposition of great arteries, dextro-looped 1 (MedGen UID: 332422).

The MEGF10 gene is associated with autosomal recessive early-onset myopathy, areflexia, respiratory distress and dysphasia (EMARDD) (MedGen UID: 482309).

The MTM1 gene is associated with X-linked centronuclear myopathy (XLCNM) (MedGen UID: 98374).

The MTO1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency (MedGen UID: 766443).

Synonym(s): CMH4

The MYBPC3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 350526), dilated cardiomyopathy (DCM) (MedGen UID: 2880), and left ventricular noncompaction cardiomyopathy (LVNC) (MedGen UID: 349005).

Synonym(s): Herculin

The MYF6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant centronuclear myopathy 3 (CNM3) (MedGen UID: 482333).

The MYH11 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 338704).

Synonym(s): ASD3; CMD1EE; CMH14; MYHC; MYHCA; SSS3; alpha-MHC

The MYH6 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant atrial septal defects (MedGen UID:371845), hypertrophic cardiomyopathy (HCM) (MedGen UID: 442484), and dilated cardiomyopathy (DCM) (MedGen UID: 412965). Additional MYH6-related conditions have been reported (OMIM: 160710).

Synonym(s): CMH1; MPD1

The MYH7 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195), dilated cardiomyopathy (DCM) (MedGen UID: 37831), left ventricular noncompaction (LVNC) (MedGen UID: 349005), and Laing distal myopathy (MPD1) (MedGen UID: 449370). It is also associated with autosomal dominant and recessive myosin storage myopathy (MSMA) (MedGen UID:374868). Additional MYH7-related conditions have also been reported (OMIM: 160760).

The MYL2 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 331754) and autosomal recessive early-onset MYL2-associated light chain myopathy (PMID: 23365102).

The MYL3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 324806).

Synonym(s): ALC1; AMLC; GT1; MLC1

The MYL4 gene is associated with autosomal recessive and autosomal dominant atrial fibrillation (PMID: 2580728, 27066836).

The MYLK gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 462427).

The MYLK2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195).

The MYOM1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (PMID: 21256114).

Synonym(s): LGMD1; LGMD1A; TTID

The MYOT gene is associated autosomal dominant myofibrillar myopathy 3 (MFM3) (MedGen UID: 322957) and limb-girdle muscular dystrophy type 1A (LGMD1A) (MedGen UID: 331802). Other MYOT-related conditions have been reported (OMIM: 604103).

Synonym(s): C4orf5

The MYOZ2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462554).

The MYPN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 490120), hypertrophic cardiomyopathy (HCM) (OMIM: 615248), and restrictive cardiomyopathy RCM (OMIM: 615248).

N
NEB
Synonym(s): NEM2

The NEB gene is associated with autosomal recessive nemaline myopathy 2 (NEM2) (MedGen UID: 342534).

The NEBL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 20951326).

The NEXN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 413929) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 462617).

NF1
Synonym(s): NFNS; VRNF; WSS

The NF1 gene is associated with autosomal dominant neurofibromatosis type 1 (NF1) (MedGen UID: 18013). Additionally, evidence of varying degrees suggests a possible association between the NF1 gene and several cancer types (PMID: 23257896, 23165953, 25130111, 20833335).

Synonym(s): CHNG5; CSX; CSX1; HLHS2; NKX2.5; NKX2E; NKX4-1; VSD3

The NKX2-5 gene is associated with autosomal dominant tetralogy of Fallot (MedGen UID: 21498), conotruncal heart malformations (MedGen UID: 341803), hypoplastic left heart (MedGen UID: 482415), and atrial septal defect with or without atrioventricular conduction defects (MedGen UID: 400040). Additionally, the NKX2-5 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 23661673), atrial fibrillation (MedGen UID: 445), and congenital hypothyroidism (MedGen UID: 482425).

Synonym(s): CSX2; CTHM; NKX2F; NKX4-2

The NKX2-6 gene is associated with autosomal recessive conotruncal heart malformations (MedGen UID: 341803).

Synonym(s): HTX5

The NODAL gene is associated with autosomal dominant heterotaxy (MedGen UID: 501198). Additionally, the NODAL gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214; PMID: 19553149).

Synonym(s): AOS5; AOVD1; TAN1; hN1

The NOTCH1 gene is associated with autosomal dominant aortic valve disorder (MedGen UID: 226776) and Adams-Oliver syndrome (MedGen UID: 807523).

Synonym(s): ANP; PND

The NPPA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrial fibrillation (MedGen UID: 394252) and autosomal recessive atrial dilated cardiomyopathy with atrial standstill (PMID: 23275345).

Synonym(s): ARP1; CHTD4; COUPTFB; COUPTFII; NF-E3; NR2F1; SVP40; TFCOUP2

The NR2F2 gene is associated with autosomal dominant congenital heart defects (MedGen UID: 777001) and heterotaxy (MedGen UID: 336609).

Synonym(s): ALPS4; CMNS; N-ras; NCMS; NRAS1; NS6

The NRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 413028).

Synonym(s): ARA267; KMT3B; SOTOS; SOTOS1; STO

The NSD1 gene is associated with autosomal dominant Sotos syndrome (MedGen UID: 833601).

O
P
Synonym(s): GROS1; LEPRE1; OI8

The P3H1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 410075).

Synonym(s): EFMR; EIEE9

The PCDH19 gene is associated with X-linked early infantile epileptic encephalopathy (MedGen UID: 338393). PCDH19-related EIEE appears to affect only heterozygous females while sparing obligate carrier males (PMID: 18469813).

Synonym(s): HCHOLA3

The PCSK9 gene is associated with autosomal dominant familial hypercholesterolemia (FH) (MedGen UID: 355007). The presence of two pathogenic variants is associated with a severe form of FH commonly referred to as homozygous FH (HoFH) (MedGen UID: 468437).

The PDLIM3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 17254821), hypertrophic cardiomyopathy (HCM) (PMID: 20801532), and arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 11329061).

The PKP2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 373205), Brugada syndrome (PMID: 24352520) and dilated cardiomyopathy (DCM) (PMID: 20716751).

Synonym(s): EBS1; PLEC1

The PLEC gene is associated with autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBSMD) (MedGen UID: 347335), epidermolysis bullosa simplex with pyloric atresia (EBSPA) (MedGen UID: 436922), epidermolysis bullosa simplex with myasthenic syndrome (EBSMS) (PMID: 21263134), and limb-girdle muscular dystrophy type 2Q (LGMD2Q) (MedGen UID: 462339). It is also associated with autosomal dominant epidermolysis bullosa simplex, Ogna type (EBSOG) (MedGen UID: 98488).

Synonym(s): KIAA0842; SKIP

The PLEKHM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dilated cardiomyopathy and left ventricular noncompaction (PMID: 26464484).

PLN
Synonym(s): PLB

The PLN gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 322782), hypertrophic cardiomyopathy (HCM) (MedGen UID: 462615), and arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 22820313).

Synonym(s): LH1; LLH; PLOD

The PLOD1 gene is associated with autosomal recessive Ehlers-Danlos syndrome, kyphoscoliotic form (MedGen UID: 75672).

The PNPLA2 gene is associated with autosomal recessive neutral lipid storage disease with myopathy (NLSDM) (MedGen UID: 339913).

Synonym(s): MEB

The POMGNT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A3 (MDDGA3) (MedGen UID: 462869), type B3 (MDDGB3) (MedGen UID: 461762) and type C3 (MDDGC3) (MedGen UID: 461767).

Synonym(s): C3orf39; GTDC2

The POMGNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A8 (MDDGA8) (MedGen UID: 766727).

Synonym(s): SGK196

The POMK gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A12 (MDDGA12) (MedGen UID: 815294) and type C12 (MDDGC12) (MedGen UID: 808099).

Synonym(s): RT; LGMD2K; MDDGA1; MDDGB1; MDDGC1

The POMT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A1 (MDDGA1) (MedGen UID: 75553), type B1 (MDDGB1) (MedGen UID: 461765) and type C1 (MDDGC1) (MedGen UID: 332193).

Synonym(s): LGMD2N; MDDGA2; MDDGB2; MDDGC2

The POMT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A2 (MDDGA2) (MedGen UID: 461761), type B2 (MDDGB2) (MedGen UID: 461766) and type C2 (MDDGC2) (MedGen UID: 461768).

The PRDM16 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (LVNC) (MedGen UID: 349005) and dilated cardiomyopathy (DCM) (OMIM: 615373).

The PRKAG2 gene is associated with autosomal dominant glycogen storage related Wolff-Parkinson-White syndrome (MedGen UID: 12162) with or without hypertrophic cardiomyopathy (HCM) (MedGen UID: 331466).

Synonym(s): PRKGR1B; PRKG1B

The PRKG1 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 815843).

Synonym(s): BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA; ICCA; IFITMD1; PKC

The PRRT2 gene is associated with a spectrum of related autosomal dominant neurological conditions (MedGen UID: 358268) including episodic kinesigenic dyskinesia 1 (EKD1), benign familial infantile seizures 2 (BFIS2), and familial infantile convulsions with paroxysmal choreoathetosis (ICCA).

Synonym(s): BPTP3; CFC; JMML; METCDS; NS1; PTP-1D; PTP2C; SH-PTP2; SH-PTP3; SHP2

The PTPN11 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527), Noonan syndrome with multiple lentigines (NSML)(MedGen UID: 442308), and metachondromatosis (MedGen UID: 98377).

Q
R
Synonym(s): CMD1NN; CRAF; NS5; Raf-1; c-Raf

The RAF1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 370589), Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 370588), and dilated cardiomyopathy (MedGen UID: 807537).

The RANGRF gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 24142675).

Synonym(s): CM-AVM; CMAVM; GAP; PKWS; RASA; RASGAP; p120; p120GAP; p120RASGAP

The RASA1 gene is associated with autosomal dominant capillary malformation-arteriovenous malformations (CM-AVM)(MedGen UID: 334007) and Parkes Weber syndrome (MedGen UID: 442305).

The RBM20 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 416441).

Synonym(s): NS8; RIBB; RIT; ROC1

The RIT1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID 506991).

Synonym(s): P23

The RRAS gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Noonan syndrome (PMID: 26446362, 24705357).

Synonym(s): MHS; MHS1; CCO

The RYR1 gene is associated with autosomal recessive and dominant central core disease (CCD) (MedGen UID: 199773) and autosomal recessive congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177) and multiminicore disease (MmD) (MedGen UID: 388775). It is also associated with autosomal dominant centronuclear myopathy (CNM) (MedGen UID: 799613) and malignant hyperthermia susceptibility type 1 (MHS1) (MedGen UID: 833963).

Synonym(s): ARVD2

The RYR2 gene is associated with autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) (MedGen UID: 351513), arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 318748) and left ventricular noncompaction (LVNC) (PMID: 24394973).

S

The SCN10A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant small fiber neuropathy (SFNP) (PMID: 23986244) and Brugada syndrome (BrS) (PMID: 24998131).

Synonym(s): EIEE6; FEB3; FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI

The SCN1A gene is associated with a spectrum of autosomal dominant SCN1A-related seizure disorders ranging from simple febrile seizures (MedGen UID: 338959) and generalized epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 388117) to Dravet syndrome (MedGen UID: 148243) and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) (MedGen UID: 148243). Other SCN1A-related conditions have been reported (OMIM: 607208).

Synonym(s): ATFB13; BRGDA5; GEFSP1

The SCN1B gene is associated with autosomal dominant generalized epilepsy with febrile seizures (MedGen UID: 348994). Additionally, the SCN1B gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 411607), atrial fibrillation (MedGen UID: 334469), cardiac conduction disease (PMID: 18464934) and autosomal recessive early infantile epileptic encephalopathy (PMID: 19710327).

The SCN2B gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 23559163) and atrial fibrillation (MedGen UID: 334469).

The SCN3B gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 413472) and atrial fibrillation (MedGen UID: 334469).

The SCN4B gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant long QT syndrome (LQTS), type 10 (MedGen UID: 394836) and atrial fibrillation (MedGen UID: 334469).

Synonym(s): CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1; ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1

The SCN5A gene is associated with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 468523), long QT syndrome (LQTS), type 3 (MedGen UID: 349087), dilated cardiomyopathy (DCM) (MedGen UID: 331341) and atrial fibrillation (MedGen UID: 462814). Other SCN5A-related conditions have been reported (OMIM: 600163).

Synonym(s): BFIS5; CERIII; CIAT; EIEE13; MED; NaCh6; Nav1.6; PN4

The SCN8A gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 482821).

Synonym(s): ETHA; FEB3B; GEFSP7; HSAN2D; NE-NA; NENA; Nav1.7; PN1; SFNP

The SCN9A gene is associated with autosomal dominant generalized epilepsy with febrile seizures plus (MedGen UID: 416629) and primary erythermalgia, also referred to as small fiber neuropathy (MedGen UID: 8688). The SCN9A gene is also associated with autosomal recessive congenital insensitivity to pain (CIP), also referred to as hereditary sensory and autonomic neuropathy type 2D (HSAN2D) (MedGen UID: 344563). Other SCN9A-related conditions have also been reported (OMIM: 60345).

Synonym(s): CMD1GG; FP; PGL5; SDH1; SDH2; SDHF

The SDHA gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 481622), gastrointestinal stromal tumors (GIST) (PMID: 21505157, 22974104, 23060355), and autosomal recessive mitochondrial complex II deficiency with or without cardiomyopathy (MedGen UID: 344401).

Synonym(s): M-SEMAH; M-SemaK; SEMAH; coll-5

The SEMA3E gene has limited evidence supporting a correlation with autosomal dominant CHARGE syndrome (MedGen UID: 75567).

Synonym(s): MDRS1; RSMD1

The SEPN1 gene is associated with autosomal recessive multiminicore disease (MmD) (MedGen UID: 388775) and autosomal recessive congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177).

Synonym(s): ADL

The SGCA gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) (MedGen UID: 334108).

Synonym(s): LGMD2E

The SGCB gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2E (LGMD2E) (MedGen UID: 347674).

Synonym(s): SGD; DAGD; 35DAG; CMD1L; SGCDP; SG-delta

The SGCD gene is associated with autosomal recessive Limb-Girdle Muscular Dystrophy type 2F (LGMD2F) (MedGen UID: 331308). Additionally, the SGCD gene has preliminary evidence supporting a correlation with isolated autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 335735).

Synonym(s): DMDA1; MAM; LGMD2C

The SGCG gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) (MedGen UID: 98045).

Synonym(s): SIAA0862; SOC2; SUR8

The SHOC2 gene is associated with autosomal dominant Noonan-like syndrome with loose anagen hair (MedGen UID: 334697).

SKI

The SKI gene is associated with autosomal dominant Shprintzen-Goldberg syndrome (MedGen UID: 231160).

Synonym(s): CDSP

The SLC22A5 gene is associated with autosomal recessive primary carnitine deficiency (MedGen UID: 90999).

Synonym(s): CSE; DYT17; DYT18; DYT9; EIG12; GLUT; GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN

The SLC2A1 gene is associated with autosomal dominant glucose transporter type 1 (GLUT1) deficiency syndrome (PMID: 19304421, 15132717, 23443458).

The SLC2A10 gene is associated with autosomal recessive arterial tortuosity syndrome (MedGen UID: 347942).

The SLC39A13 gene is associated with autosomal recessive Ehlers-Danlos syndrome-like spondylocheirodysplasia (SCD-EDS) (MedGen UID: 393515).

Synonym(s): SLC11A3

The SLC40A1 gene is associated with autosomal dominant hemochromatosis type 4 (HFE4) (aka ferroportin disease) (MedGen UID: 340044).

The SLMAP gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 23064965).

Synonym(s): MADH3

The SMAD3 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 468423) and Loeys-Dietz syndrome (LDS) (MedGen UID: 462437).

Synonym(s): DPC4; JIP; MADH4; MYHRS

The SMAD4 gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518) and hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 331400).

Synonym(s): AOVD2; HsT17432; MADH6; MADH7

The SMAD6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant aortic valve disease type 2 (AOVD2) (MedGen UID: 762200) and syndromic structural heart defects (PMID: 22275001).

Synonym(s): MADH6; MADH9

The SMAD9 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant pulmonary arterial hypertension (MedGen UID: 57749).

Synonym(s): SNT1

The SNTA1 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant long QT syndrome (LQTS), type 12 (MedGen UID: 442824).

Synonym(s): GF1; GGF1; GINGF; HGF; NS4

The SOS1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 339908).

Synonym(s): NS9; SOS-2

The SOS2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 851638; PMID: 26173643, 25795793, 26446362).

Synonym(s): NFLS; PPP1R147; hSpred1; spred-1

The SPRED1 gene is associated with autosomal dominant Legius syndrome (MedGen UID: 370709).

Synonym(s): A170; FTDALS3; OSIL; PDB3; ZIP3; p60; p62; p62B

The SQSTM1 gene is associated with autosomal dominant Paget disease of bone (PDB3) (MedGen UID: 10493). Additionally, the SQSTM1 gene has preliminary evidence supporting a correlation with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) (MedGen UID: 850710).

The STAC3 gene is associated with autosomal recessive Native American myopathy (NAM) (MedGen UID: 340586).

The STIM1 gene is associated with autosomal dominant tubular aggregate myopathy (TAM) (MedGen UID: 98050) and autosomal dominant Stormoken syndrome (MedGen UID: 350028). Additionally, the STIM1 gene has preliminary evidence supporting a correlation with autosomal recessive immunodeficiency-10 (PMID: 19420366).

The SUN1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Emery-Dreifuss muscular dystrophy (EDMD) (PMID: 25210889).

The SUN2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Emery-Dreifuss muscular dystrophy (EDMD) (PMID: 25210889).

Synonym(s): C6orf98

The SYNE1 gene is associated with autosomal recessive spinocerebellar ataxia type 8 (SCAR8) (MedGen UID: 343973). Additionally, the SYNE1 gene has preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) type 4 (EDMD4) (MedGen UID: 414476).

The SYNE2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 5 (EDMD5) (MedGen UID: 414111).

T
TAZ
Synonym(s): CMD3A; EFE2; EFE

The TAZ gene is associated with X-linked 3-methylglutaconic aciduria, also known as Barth syndrome (MedGen UID: 107893), and dilated cardiomyopathy (DCM) (MedGen UID: 2880).

Synonym(s): HOS

The TBX5 gene is associated with autosomal dominant Holt-Oram syndrome (MedGen UID: 120524).

Synonym(s): TELE; CMD1N; T-cap; LGMD2G; telethonin

The TCAP gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649). The TCAP gene is also associated with autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) (MedGen UID: 400895).

The TFR2 gene is associated with autosomal recessive hemochromatosis type 3 (HFE3) (MedGen UID: 388114).

The TGFB2 gene is associated with autosomal dominant Loeys-Dietz syndrome (LDS) type 4 (MedGen UID: 766676).

Synonym(s): ARVD1; ARVD

The TGFB3 gene is associated with autosomal dominant Rienhoff syndrome (MedGen UID: 816342) and arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 349530).

Synonym(s): MSSE; ESS1

The TGFBR1 gene is associated with autosomal dominant thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 468423), Loeys-Dietz syndrome (LDS) (MedGen UID: 395828), and multiple self-healing squamous epithelioma (MedGen UID: 154270).

Synonym(s): MFS2

The TGFBR2 gene is associated with autosomal dominant Loeys-Dietz syndrome (LDS) type 1B (MedGen UID: 390653) and thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 468423).

The TIA1 gene is associated with autosomal dominant and recessive Welander distal myopathy (WDM) (MedGen UID: 67441).

The TMEM43 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (MedGen UID: 346805). Additionally, the TMEM43 gene has preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 7 (EDMD7) (MedGen UID: 765974).

The TMEM5 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A10 (MDDGA10) (MedGen UID: 767295).

The TMEM70 gene is associated with autosomal recessive ATP synthase deficiency (MedGen UID: 481329).

The TMPO gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880).

Synonym(s): TNNC

The TNNC1 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649) and dilated cardiomyopathy (DCM) (MedGen UID: 395631).

Synonym(s): CMD2A

The TNNI3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), dilated cardiomyopathy (DCM) (MedGen UID: 2880), and restrictive cardiomyopathy (RCM) (MedGen UID: 396236).

The TNNT1 gene is associated with autosomal recessive nemaline myopathy 5 (NEM5) (MedGen UID: 344273).

Synonym(s): CMH2; CMD1D

The TNNT2 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), dilated cardiomyopathy (DCM) (MedGen UID: 2880), restrictive cardiomyopathy (RCM) (MedGen UID: 382807), and left ventricular noncompaction cardiomyopathy (LVNC) (MedGen UID: 349005).

Synonym(s): LGMD1F

The TNPO3 gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) (MedGen UID: 333983).

The TOR1AIP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dystonia, cerebellar atrophy and cardiomyopathy (PMID: 25425325), and limb-girdle muscular dystrophy (PMID: 24856141).

Synonym(s): C15orf13; CMH3

The TPM1 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), dilated cardiomyopathy (DCM) (MedGen UID: 2880), and left ventricular noncompaction cardiomyopathy (LVNC) (MedGen UID: 349005).

Synonym(s): AMCD1

The TPM2 gene is associated with autosomal dominant nemaline myopathy 4 (NEM4) (MedGen UID: 324513) and congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177). Other TPM2-related conditions have been reported (OMIM: 190990).

Synonym(s): NEM1

The TPM3 gene is associated with autosomal dominant and recessive nemaline myopathy 1 (NEM1) (MedGen UID: 373089) and congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177).

Synonym(s): C4orf41; LGMD2S

The TRAPPC11 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) (MedGen UID: 815566).

The TRDN gene is associated with autosomal recessive long QT syndrome (LQTS) (PMID: 25922419) and catecholaminergic polymorphic ventricular tachycardia (CPVT) (MedGen UID: 351513).

Synonym(s): LGMD2H; BBS11; HT2A; TATIP

The TRIM32 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS)(MedGen UID: 395295) and limb-girdle muscular dystrophy type 2H (LGMD2H) (MedGen UID:78750). Additionally, the TRIM32 gene has preliminary evidence supporting a correlation with autosomal recessive neurodegeneration with brain iron accumulation (PMID: 26586575).

The TRPM4 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 21887725; PMID: 20301690).

TTN
Synonym(s): TMD; CMH9; CMD1G; CMPD4; EOMFC; HMERF; MYLK5; LGMD2J

The TTN gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880). Additionally, the TTN gene is associated with a diverse group of disorders affecting skeletal muscles, including autosomal dominant tibial muscular dystrophy (TMD) (MedGen UID: 333047) and autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) (MedGen UID: 324741), autosomal recessive centronuclear myopathy (PMID: 23975875), and autosomal dominant hereditary myopathy with early respiratory failure (HMERF) (MedGen UID: 350930). Additional TTN-related conditions have also been reported (OMIM: 188840).

TTR
Synonym(s): PALB; CTS1

The TTR gene is associated with autosomal dominant transthyretin amyloidosis (MedGen UID: 414031).

The TXNRD2 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 21247928).

U
V
VCL

The VCL gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649).

VCP

The VCP gene is associated with autosomal dominant inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD1) (MedGen UID: 322251). Additionally, the VCP gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) (MedGen UID: 462753).

W
X
Y
Z
Synonym(s): DIH3; FOG2; SRXY9; ZC2HC11B; ZNF89B; hFOG-2

The ZFPM2 gene is associated with diaphragmatic hernia (MedGen UID: 347546). Additionally, the ZFPM2 gene has preliminary evidence supporting a correlation with autosomal dominant tetralogy of Fallot (PMID: 21919901, 20807224, 17309641).

Synonym(s): HTX; HTX1; VACTERLX; ZNF203

The ZIC3 gene is associated with X-linked recessive VACTERL association with hydrocephaly (MedGen UID: 326815) and X-linked recessive heterotaxy (MedGen UID: 336609).