MYH2 gene related symptoms and diseases
All the information presented here about the MYH2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MYH2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Generalized hypotonia | Uncommon - Between 30% and 50% cases |
| Progressive muscle weakness | Uncommon - Between 30% and 50% cases |
| Progressive ophthalmoplegia | Uncommon - Between 30% and 50% cases |
| Hand muscle weakness | Uncommon - Between 30% and 50% cases |
| Limb-girdle muscle weakness | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with MYH2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Neck muscle weakness
- Rimmed vacuoles
- Myopathic facies
- Steppage gait
- Congenital contracture
- Nasal speech
- Ragged-red muscle fibers
- External ophthalmoplegia
And 16 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MYH2 gene
Here you will find a list of rare diseases related to the MYH2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEREDITARY INCLUSION BODY MYOPATHY-JOINT CONTRACTURES-OPHTHALMOPLEGIA SYNDROME
Alternate names
HEREDITARY INCLUSION BODY MYOPATHY-JOINT CONTRACTURES-OPHTHALMOPLEGIA SYNDROME Is also known as inclusion body myopathy type 3, ibm3, myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles, hibm3, inclusion body myopathy 3, autosomal dominant, formerly, ibm3, formerly, mypop, hereditary inclusion body myopathy type 3
Description
Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.
Most common symptoms of HEREDITARY INCLUSION BODY MYOPATHY-JOINT CONTRACTURES-OPHTHALMOPLEGIA SYNDROME
- Generalized hypotonia
- Scoliosis
- Muscle weakness
- Ptosis
- Flexion contracture
More info about HEREDITARY INCLUSION BODY MYOPATHY-JOINT CONTRACTURES-OPHTHALMOPLEGIA SYNDROME
CHILDHOOD-ONSET AUTOSOMAL RECESSIVE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
Search interest in MYH2
Potential gene panels for MYH2 gene
Congenital Myopathy Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Congenital Myopathy Advanced Sequencing Evaluation that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON TRIM32
More info about this panel United States.
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 Contractures Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6
More info about this panel United States.
Comprehensive Neuromuscular Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Neuromuscular Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
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.
Inclusion Body Myopathy and Autosomal Recessive, Early Onset Myopathy via MYH2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the MYH2 gene.
More info about this panel United States.
Comprehensive Neuromuscular Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
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.
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1
More info about this panel Germany.
MYH2 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the MYH2 gene.
More info about this panel Germany.
Inclusion body myopathy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MYH2 gene.
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.
Invitae Comprehensive Neuromuscular Disorders Panel Panel
United States.
By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1
More info about this panel United States.
Invitae Inclusion Body Myopathy Panel Panel
United States.
By Invitae Invitae Inclusion Body Myopathy Panel that also includes the following genes: TTN VCP GNE MYH2
More info about this panel United States.
Expanded Neuromuscular Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Sequencing Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
MYH2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MYH2 gene.
More info about this panel United States.
Arthrogryposes Panel Panel
Finland.
By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
More info about this panel Finland.
Hereditary Cancer Comprehensive Panel Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Hereditary Cancer Comprehensive Panel that also includes the following genes: RUNX1 SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TERC
More info about this panel United States.
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
Spain.
By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel Spain.
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