Xcode Life

Gene: MYH7

Alternate names for this Gene: CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM

Gene Summary: Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2

Description of this Gene: myosin heavy chain 7

Type of Gene: protein-coding

Gene: MIR208B

Alternate names for this Gene: MIRN208B|mir-208b

Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2

Description of this Gene: microRNA 208b

Type of Gene: ncRNA

rs28631169 in MYH7;MIR208B gene and Atrial Fibrillation

PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

rs758889483 in MYH7;MIR208B gene and CARDIOMYOPATHY, DILATED, 1S

PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

PMID 11106718 2000 Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.

PMID 21127202 2011 Mutations in the sarcomere gene MYH7 in Ebstein anomaly.

PMID 12379228 2002 Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.

PMID 18506004 2008 Mutations in sarcomere protein genes in left ventricular noncompaction.

PMID 15769782 2005 Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.

rs141764279 in MYH7;MIR208B gene and Cardiomyopathy, Familial Hypertrophic, 1 (disorder)

PMID 12951062 2003 "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."

PMID 1638703 1992 Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.

PMID 15358028 2004 Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

PMID 16267253 2005 Gene mutations in apical hypertrophic cardiomyopathy.

PMID 1417858 1992 Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 12975413 2003 Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.

PMID 12818575 2003 Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

PMID 12566107 2003 Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.

PMID 21810866 2011 HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

PMID 11733062 2001 The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.

PMID 14607462 2003 American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

PMID 12974739 2003 Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PMID 10862102 2000 Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy.

PMID 11133230 2001 Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.

PMID 10329202 1999 Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain.

PMID 11113006 2000 Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene.

PMID 10065021 1998 Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 8282798 1994 Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.

PMID 9829907 1998 Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.

PMID 8268932 1993 Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 8899546 1996 Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy.

PMID 16918501 2007 Localization of the binding site of the C-terminal domain of cardiac myosin-binding protein-C on the myosin rod.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 11861413 2002 Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.

PMID 25558701 2014 Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic.

rs397516201 in MYH7;MIR208B gene and Cardiomyopathy, Hypertrophic, Familial

PMID 24111713 2014 Genetics of hypertrophic cardiomyopathy in Norway.

PMID 20800588 2010 Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.

PMID 27247418 2016 Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

PMID 18409188 2008 A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 25031304 2014 Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.

PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 20624503 2011 Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

PMID 15358028 2004 Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

PMID 16352453 2006 Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 16858239 2006 A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.

PMID 11861413 2002 Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

rs397516201 in MYH7;MIR208B gene and Hypertrophic Cardiomyopathy

PMID 21239446 2011 Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.

PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 24510615 2014 Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

PMID 26743238 2016 Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.

PMID 25031304 2014 Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 23674513 2013 Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.

PMID 28202948 2017 Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors.

PMID 27247418 2016 Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

PMID 18409188 2008 A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

PMID 27688314 2016 Genotype-Dependent and -Independent Calcium Signaling Dysregulation in Human Hypertrophic Cardiomyopathy.

PMID 15358028 2004 Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

PMID 24111713 2014 Genetics of hypertrophic cardiomyopathy in Norway.

PMID 24093860 2013 Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.

PMID 16352453 2006 Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.

PMID 20624503 2011 Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 16858239 2006 A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.

PMID 11861413 2002 Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 28790153 2017 Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

PMID 21310275 2011 Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

PMID 16918501 2007 Localization of the binding site of the C-terminal domain of cardiac myosin-binding protein-C on the myosin rod.