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.
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
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
Search interest in MYF6
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Estonia.
MYF6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MYF6 gene.
More info about this panel United States.
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 Spain.
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 Spain.
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 Spain.
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