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.
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
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
Search interest in SYNE2
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 United States.
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 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.
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.
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 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 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 United States.
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 United States.
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 United States.
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 Portugal.
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 Portugal.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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.
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 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.
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 Germany.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 United States.
SYNE2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SYNE2 gene.
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.
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 Spain.
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