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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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

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

Search interest in MYLK2

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

MYLK2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to MYLK2 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to MYLK2 gene

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1

Alternate names

Description

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

Search interest in MYLK2

Potential gene panels for MYLK2 gene

Comprehensive Cardiac Panel Panel

Pan-cardiomyopathy panel Panel

Cardiomyopathy Panel Panel

Hypertrophic Cardiomyopathy Panel Panel

Pan Cardiomyopathy Panel (62 Genes) Panel

Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel

Comprehensive Cardiomyopathy Panel Panel

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

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

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

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

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

Sudden Cardiac Arrest Sequencing Panel with CNV Detection Panel

Pan Cardiomyopathy Sequencing Panel with CNV Detection Panel

Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection Panel

Cardiomyopathy panel Panel

Cardiomyopathy, hypertrophic, midventricular, digenic Panel

Cardiomyopathy, hypertrophic Panel Panel

Hypertrophic Cardiomyopathy Panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel

Cardiomyopathies Panel Panel

Hypertrophic Cardiomyopathy Extended Panel Panel

Cardiovascular Diseases_General Panel Panel

Arrhythmia General Panel Panel

Hypertrophic cardiomyopathy extended panel Panel

Cardiomyopathies General Panel Panel

Comprehensive Cardiovascular: Sequencing Panel Panel

Familial Cardiomyopathy Full Gene Sequencing Panel Panel

Pan-Cardio NGS Panel Panel

Sudden Death Syndrome NGS Panel Panel

Hypertrophic Cardiomyopathy NGS Panel Panel

MYLK2 Panel

CardioGene Set Panel

Cardiomyopathy Gene Set Panel

Hypertrophic Cardiomyopathy Gene Set Panel

Hypertrophic Cardiomyopathy NGS and Deletion/Duplication Panel Panel

MYLK2 Gene Sequencing and Deletion/Duplication Analysis Panel

Cardiomyopathy Exome Panel Panel

FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL Panel

FAMILIAL HYPERTROPHIC CARDIOMYOPATHY Panel

FAMILIAL HYPERTROPHIC CARDIOMYOPATHY: NGS PANEL Panel

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

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