SYNE2 gene related symptoms and diseases

All the information presented here about the SYNE2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SYNE2 gene

Symptoms // Phenotype % Cases
Scapular winging Very Common - Between 80% and 100% cases
Respiratory insufficiency Very Common - Between 80% and 100% cases
Limb muscle weakness Very Common - Between 80% and 100% cases
Proximal muscle weakness Very Common - Between 80% and 100% cases
Proximal amyotrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SYNE2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Elevated serum creatine phosphokinase
  • Arrhythmia
  • Muscular dystrophy
  • Congestive heart failure
  • Cardiomyopathy
  • Dilated cardiomyopathy
  • Ptosis
  • Muscle weakness

And 89 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SYNE2 gene

Here you will find a list of rare diseases related to the SYNE2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


Alternate names

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy, emd2, muscular dystrophy, limb-girdle, type 1b, formerly, emery-dreifuss muscular dystrophy, autosomal dominant, edmd2, cardiomyopathy, dilated, with quadriceps myopathy, muscular dystrophy, proximal, type 1b, forme

Description

EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

Most common symptoms of AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

SOURCES: OMIM ORPHANET

EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5


Most common symptoms of EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5

  • Muscle weakness
  • Ptosis
  • Respiratory insufficiency
  • Cardiomyopathy
  • Congestive heart failure


More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5

SOURCES: OMIM


Potential gene panels for SYNE2 gene

Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation that also includes the following genes: SYNE2 SYNE1 TMEM43 EMD FHL1 LMNA

More info about this panel

Muscular Dystrophy Advanced Evaluation Panel

United States.

By Athena Diagnostics Inc Muscular Dystrophy Advanced Evaluation that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CCDC78 CAPN3 DNAJB6

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

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

Limb-Girdle Muscular Dystrophy Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Limb-Girdle Muscular Dystrophy that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 CAV3

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 with Prominent Contractures Deletion/Duplication Analysis Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis that also includes the following genes: RYR1 SELENON SYNE2 SYNE1 COL6A1 COL6A2 COL6A3 TMEM43 KLHL40 EMD

More info about this panel

Congenital Myopathy with Prominent Contractures Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myopathy with Prominent Contractures Sequencing Panel that also includes the following genes: RYR1 SELENON SYNE2 SYNE1 COL6A1 COL6A2 COL6A3 TMEM43 KLHL40 EMD

More info about this panel

Emery-Dreifuss Muscular Dystrophy Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Emery-Dreifuss Muscular Dystrophy Sequencing Panel that also includes the following genes: SYNE2 SYNE1 TMEM43 EMD FHL1 LMNA

More info about this panel

Emery-Dreifuss muscular dystrophy type 5, AD (sequence analysis of SYNE2) Panel

Portugal.

By CGC Genetics

This panel specifically test the SYNE2 gene.

More info about this panel

Congenital muscular dystrophies (NGS panel for 31 genes) Panel

Portugal.

By CGC Genetics Congenital muscular dystrophies (NGS panel for 31 genes) that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1

More info about this panel

Muscular Dystrophy: Emery-Dreifuss Panel

Germany.

By MGZ Medical Genetics Center Muscular Dystrophy: Emery-Dreifuss that also includes the following genes: SYNE2 SYNE1 TMEM43 EMD FHL1 LMNA

More info about this panel

Heart Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB

More info about this panel

Emery-Dreifuss Muscular Dystrophy Panel

Germany.

By MGZ Medical Genetics Center Emery-Dreifuss Muscular Dystrophy that also includes the following genes: SYNE2 SYNE1 TMEM43 EMD FHL1 LMNA

More info about this panel

Muscle Disease with Contractures and/or Rigid Spine Panel

Germany.

By MGZ Medical Genetics Center Muscle Disease with Contractures and/or Rigid Spine that also includes the following genes: RYR1 TNNT1 TPM2 TPM3 ACTA1 CAPN3 SELENON SYNE2 SYNE1 CFL2

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

Emery-Dreifuss muscular dystrophy type 5 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SYNE2 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

Muscular Dystrophies Panel Panel

Germany.

By CeGaT GmbH Muscular Dystrophies Panel that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1

More info about this panel

Ventricular arrhythmia and sudden death without structural heart disease Panel

Spain.

By Health in Code Ventricular arrhythmia and sudden death without structural heart disease that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TBX5 TNNC1 TNNI3

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Skeletal myopathy Panel Panel

Spain.

By Health in Code Skeletal myopathy Panel that also includes the following genes: SCO2 SDHA SGCA SGCB SGCD SLC22A5 SLC25A3 SLC25A4 SURF1 TAZ

More info about this panel

Cardiac conduction disease Panel Panel

Spain.

By Health in Code Cardiac conduction disease Panel that also includes the following genes: SCN10A SCN1B SCN4B SCN5A TBX5 TTR CACNA1D ACTC1 IRX3 KCNK17

More info about this panel

Arrhythmia General Panel Panel

Spain.

By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2

More info about this panel

Cardiomyopathies General Panel Panel

Spain.

By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD

More info about this panel

Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 CAV3

More info about this panel

Muscular Dystrophies NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Muscular Dystrophies NGS Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN MMEL1 CAPN3 DNAJB6

More info about this panel

SYNE2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SYNE2 gene.

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

Emery-Dreifuss Muscular Dystrophy , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Emery-Dreifuss Muscular Dystrophy , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SYNE2 SYNE1 TMEM43 EMD FHL1 LMNA

More info about this panel


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