MYF6 gene related symptoms and diseases

All the information presented here about the MYF6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MYF6 gene

Symptoms // Phenotype % Cases
Muscle weakness Very Common - Between 80% and 100% cases
Myopathy Very Common - Between 80% and 100% cases
Centrally nucleated skeletal muscle fibers Very Common - Between 80% and 100% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Malignant hyperthermia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MYF6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Pyloric stenosis
  • Ophthalmoparesis
  • Skeletal muscle hypertrophy
  • Calf muscle hypertrophy
  • Large for gestational age
  • Mildly elevated creatine phosphokinase
  • Generalized amyotrophy
  • Muscle fibrillation

And 47 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MYF6 gene

Here you will find a list of rare diseases related to the MYF6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY


Alternate names

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY Is also known as myotubular myopathy, autosomal dominant, ad-cnm, myopathy, centronuclear, autosomal dominant

Description

Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

Most common symptoms of AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Pain


More info about AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

SOURCES: OMIM ORPHANET

MYOPATHY, CENTRONUCLEAR, 3; CNM3


Most common symptoms of MYOPATHY, CENTRONUCLEAR, 3; CNM3

  • Muscle weakness
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Muscle cramps
  • Centrally nucleated skeletal muscle fibers


More info about MYOPATHY, CENTRONUCLEAR, 3; CNM3

SOURCES: OMIM


Potential gene panels for MYF6 gene

Neuromuscular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2

More info about this panel

Congenital Muscular Myopathy Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Congenital Muscular Myopathy that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 ACTA1 SELENON CFL2 CNTN1 DNM2

More info about this panel

Neuromuscular Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2

More info about this panel

Congenital Myopathy Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON

More info about this panel

Congenital Myopathy Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myopathy Deletion/Duplication Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON

More info about this panel

Centronuclear Myopathy Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Centronuclear Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 CCDC78 SPEG DNM2 MTM1 MYF6

More info about this panel

Myopathy, centronuclear 3 (sequence analysis of MYF6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MYF6 gene.

More info about this panel

Congenital myopathy (NGS panel of 19 genes) Panel

Portugal.

By CGC Genetics Congenital myopathy (NGS panel of 19 genes) that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 ACTA1 CCDC78 SELENON CFL2 CNTN1 MAMLD1

More info about this panel

Congenital myopathy (NGS panel of 19 genes) Panel

Portugal.

By CGC Genetics Congenital myopathy (NGS panel of 19 genes) that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 ACTA1 CCDC78 SELENON CFL2 CNTN1 MAMLD1

More info about this panel

Centronuclear Myopathy-3, Autosomal Dominant via MYF6 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MYF6 gene.

More info about this panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5

More info about this panel

Centronuclear myopathy type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MYF6 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Congenital and Distal Myopathies Panel Panel

Germany.

By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3

More info about this panel

Congenital Myopathy and Distal Myopathy NGS panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Congenital Myopathy and Distal Myopathy NGS panel that also includes the following genes: RYR1 SQSTM1 TIA1 TNNT1 TPM2 TPM3 MYOT TTN VCP ACTA1

More info about this panel

MYF6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MYF6 gene.

More info about this panel

CENTRONUCLEAR MYOPATHY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CENTRONUCLEAR MYOPATHY NGS PANEL that also includes the following genes: RYR1 BIN1 SPEG MAMLD1 MTMR14 DNM2 MTM1 MYF6

More info about this panel

Centronuclear Myopathy Type 3 , Sequencing MYF6 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MYF6 gene.

More info about this panel

Centronuclear Myopathy , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Centronuclear Myopathy , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: RYR1 BIN1 DNM2 MTM1 MYF6

More info about this panel


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