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.

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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

SOURCES: ORPHANET OMIM

CHILDHOOD-ONSET AUTOSOMAL RECESSIVE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA



More info about CHILDHOOD-ONSET AUTOSOMAL RECESSIVE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

SOURCES: ORPHANET


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

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 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

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

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

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

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

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

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

MYH2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the MYH2 gene.

More info about this panel

Inclusion body myopathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MYH2 gene.

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

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

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

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

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

MYH2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MYH2 gene.

More info about this panel

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

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

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


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