MYLK2 gene related symptoms and diseases

All the information presented here about the MYLK2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MYLK2 gene

Symptoms // Phenotype % Cases
Cardiomyopathy Very Common - Between 80% and 100% cases
Congestive heart failure Very Common - Between 80% and 100% cases
Abnormality of metabolism/homeostasis Very Common - Between 80% and 100% cases
Arrhythmia Very Common - Between 80% and 100% cases
Hypertrophic cardiomyopathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MYLK2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Ventricular hypertrophy
  • Left ventricular hypertrophy
  • Asymmetric septal hypertrophy
  • Subvalvular aortic stenosis
  • Muscular subvalvular aortic stenosis
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Rare diseases associated to MYLK2 gene

Here you will find a list of rare diseases related to the MYLK2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1


Alternate names

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 Is also known as cmh, asymmetric septal hypertrophy, hypertrophic subaortic stenosis, idiopathic, ventricular hypertrophy, hereditary, ash

Description

Hereditary ventricular hypertrophy (CMH, HCM, ASH, or IHSS) in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive heart failure, and sudden death. Seidman (2000) reviewed studies of hypertrophic cardiomyopathy in man and mouse. Genetic Heterogeneity of Hypertrophic CardiomyopathyAdditional forms of hypertrophic cardiomyopathy include CMH2 (OMIM ), caused by mutation in the TNNT2 gene (OMIM ) on chromosome 1q32; CMH3 (OMIM ), caused by mutation in the TPM1 gene (OMIM ) on chromosome 15q22; CMH4 (OMIM ), caused by mutation in the MYBPC3 gene (OMIM ) on chromosome 11p11; CMH6 (OMIM ), caused by mutation in the PRKAG2 gene (OMIM ) on chromosome 7q36; CMH7 (OMIM ), caused by mutation in the TNNI3 gene (OMIM ) on chromosome 19q13; CMH8 (OMIM ), caused by mutation in the MYL3 gene (OMIM ) on chromosome 3p21; CMH9 (see {188840}), caused by mutation in the TTN gene (OMIM ) on chromosome 2q31; CMH10 (see {160781}), caused by mutation in the MYL2 gene (OMIM ) on chromosome 12q24; CMH11 (OMIM ), caused by mutation in the ACTC1 gene (OMIM ) on chromosome 15q14; CMH12 (OMIM ), caused by mutation in the CSRP3 gene (OMIM ) on chromosome 11p15; CMH13 (OMIM ), caused by mutation in the TNNC1 gene (OMIM ) on chromosome 3p21; CMH14 (OMIM ), caused by mutation in the MYH6 gene (OMIM ) on chromosome 14q12; CMH15 (OMIM ), caused by mutation in the VCL gene (OMIM ) on chromosome 10q22; CMH16 (OMIM ), caused by mutation in the MYOZ2 gene (OMIM ) on chromosome 4q26; CMH17 (OMIM ), caused by mutation in the JPH2 gene (OMIM ) on chromosome 20q12; CMH18 (OMIM ), caused by mutation in the PLN gene (OMIM ) on chromosome 6q22; CMH19 (OMIM ), caused by mutation in the CALR3 gene (OMIM ) on chromosome 19p13; CMH20 (OMIM ), caused by mutation in the NEXN gene (OMIM ) on chromosome 1p31.1; CMH21, mapped to chromosome 7p12.1-q21; CMH22 (see {615248}), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21; CMH23 (see {612158}), caused by mutation in the ACTN2 gene (OMIM ) on chromosome 1q43; CMH24 (see {601493}), caused by mutation in the LDB3 gene (OMIM ) on chromosome 10q23; CMH25 (OMIM ), caused by mutation in the TCAP gene (OMIM ) on chromosome 17q12; CMH26 (OMIM ), caused by mutation in the FLNC gene (OMIM ) on chromosome 7q32; and CMH27 (OMIM ), caused by mutation in the ALPK3 gene (OMIM ) on chromosome 15q25.The CMH5 designation was initially assigned to a CMH family showing genetic heterogeneity. Subsequently, affected individuals were found to carry mutations in the MYH7 (CMH1) and/or MYBPC3 (CMH4) genes.Hypertrophic cardiomyopathy has also been associated with mutation in the gene encoding cardiac myosin light-peptide kinase (MYLK2; see {606566.0001}), which resides on chromosome 20q13.3; the gene encoding caveolin-3 (CAV3; see {601253.0013}), which maps to chromosome 3p25; and with mutations in genes encoding mitochondrial tRNAs: see mitochondrial tRNA-glycine (MTTG ) and mitochondrial tRNA-isoleucine (MTTI ).

Most common symptoms of CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1

  • Cardiomyopathy
  • Congestive heart failure
  • Abnormality of metabolism/homeostasis
  • Arrhythmia
  • Hypertrophic cardiomyopathy


More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1

SOURCES: OMIM


Potential gene panels for MYLK2 gene

Comprehensive Cardiac Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Cardiac Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1

More info about this panel

Pan-cardiomyopathy panel Panel

Canada.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Pan-cardiomyopathy panel that also includes the following genes: RYR2 SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

More info about this panel

Cardiomyopathy Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cardiomyopathy Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SCO2 SGCD SKI BRAF SNTA1 SOS1

More info about this panel

Hypertrophic Cardiomyopathy Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hypertrophic Cardiomyopathy Panel that also includes the following genes: SCO2 SURF1 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL

More info about this panel

Pan Cardiomyopathy Panel (62 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Pan Cardiomyopathy Panel (62 Genes) that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN

More info about this panel

Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCA SGCB SGCD SGCG

More info about this panel

Comprehensive Cardiomyopathy Panel Panel

United States.

By GeneDx Comprehensive Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1 TNNI3

More info about this panel

Hypertrophic cardiomyopathy (HCM, NGS panel for 22 genes) Panel

Portugal.

By CGC Genetics Hypertrophic cardiomyopathy (HCM, NGS panel for 22 genes) that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL MYOZ2 ACTC1 CAV3

More info about this panel

Cardiomyopathy, hypertrophic, midventricular, digenic (sequence analysis of MYLK2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MYLK2 gene.

More info about this panel

Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes) Panel

Portugal.

By CGC Genetics Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes) that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SGCD SNTA1 TCAP TNNC1 TNNI3 TNNT2

More info about this panel

Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel for 36 genes) Panel

Portugal.

By CGC Genetics Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel for 36 genes) that also includes the following genes: RYR2 SGCD TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL MYOZ2

More info about this panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF

More info about this panel

Sudden Cardiac Arrest Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Sudden Cardiac Arrest Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN2B SCN4B SCN5A SNTA1 TGFBR2 TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Pan Cardiomyopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Pan Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN5A SCO2 SGCD SGCG BRAF SOS1 TAZ TCAP TGFB3

More info about this panel

Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCO2 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL

More info about this panel

Cardiomyopathy panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Cardiomyopathy panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Cardiomyopathy, hypertrophic, midventricular, digenic Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MYLK2 gene.

More info about this panel

Cardiomyopathy, hypertrophic Panel Panel

Germany.

By CeGaT GmbH Cardiomyopathy, hypertrophic Panel that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL MYOZ2 JPH2

More info about this panel

Hypertrophic Cardiomyopathy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hypertrophic Cardiomyopathy that also includes the following genes: SLC25A4 SOS1 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL

More info about this panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Spain.

By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA

More info about this panel

Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel

Spain.

By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4

More info about this panel

Cardiomyopathies Panel Panel

Spain.

By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1

More info about this panel

Hypertrophic Cardiomyopathy Extended Panel Panel

Spain.

By Health in Code Hypertrophic Cardiomyopathy Extended Panel that also includes the following genes: MRPL3 RYR2 SLC22A5 BRAF SLC25A4 SOS1 SURF1 TAZ TCAP KLF10

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Arrhythmia General Panel Panel

Spain.

By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2

More info about this panel

Hypertrophic cardiomyopathy extended panel Panel

Spain.

By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ

More info about this panel

Cardiomyopathies General Panel Panel

Spain.

By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD

More info about this panel

Comprehensive Cardiovascular: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI SLC22A5 BRAF

More info about this panel

Familial Cardiomyopathy Full Gene Sequencing Panel Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Familial Cardiomyopathy Full Gene Sequencing Panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TGFB3 TMPO TNNC1 TNNI3 TNNT2

More info about this panel

Pan-Cardio NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Pan-Cardio NGS Panel that also includes the following genes: MRPL3 RYR2 SCN1B SCN4B SCN5A SDHA SGCD SNTA1 TAZ TBX1

More info about this panel

Sudden Death Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Sudden Death Syndrome NGS Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SGCD SLC25A4 SNTA1 TAZ TCAP TGFB3

More info about this panel

Hypertrophic Cardiomyopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hypertrophic Cardiomyopathy NGS Panel that also includes the following genes: RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1 TNNI3

More info about this panel

MYLK2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MYLK2 gene.

More info about this panel

CardioGene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis CardioGene Set that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A SGCD BRAF SNTA1 SOS1 TAZ

More info about this panel

Cardiomyopathy Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Cardiomyopathy Gene Set that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1

More info about this panel

Hypertrophic Cardiomyopathy Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Hypertrophic Cardiomyopathy Gene Set that also includes the following genes: RIT1 BRAF SOS1 TNNC1 TNNI3 TNNT2 TPM1 TTR MYOZ2 ACTC1

More info about this panel

Hypertrophic Cardiomyopathy NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Hypertrophic Cardiomyopathy NGS and Deletion/Duplication Panel that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 VCL MYOZ2 ACTC1 CAV3 LDB3

More info about this panel

MYLK2 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the MYLK2 gene.

More info about this panel

Cardiomyopathy Exome Panel Panel

United States.

By Northwest Clinical Genomics Laboratory University of Washington Cardiomyopathy Exome Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1

More info about this panel

FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL that also includes the following genes: MRPL3 SCN5A SGCD TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2

More info about this panel

FAMILIAL HYPERTROPHIC CARDIOMYOPATHY Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPERTROPHIC CARDIOMYOPATHY that also includes the following genes: TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL ACTC1 CAV3 MYLK2

More info about this panel

FAMILIAL HYPERTROPHIC CARDIOMYOPATHY: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPERTROPHIC CARDIOMYOPATHY: NGS PANEL that also includes the following genes: MRPL3 SCN5A TCAP KLF10 TNNC1 TNNI3 TNNT2 TPM1 TTN VCL

More info about this panel

Familial Hypertrophic Cardiomyopathy, Panel Massive Sequencing (NGS) 37 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Hypertrophic Cardiomyopathy, Panel Massive Sequencing (NGS) 37 Genes that also includes the following genes: RYR2 SLC25A4 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL

More info about this panel

Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Panel

Spain.

By Reference Laboratory Genetics Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC25A3 SLC6A4 SNTA1 TAZ

More info about this panel


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