Emery-dreifuss Muscular Dystrophy 5, Autosomal Dominant; Edmd5
Genes related to Emery-dreifuss Muscular Dystrophy 5, Autosomal Dominant; Edmd5
- SYNE2
Clinical Features
Top most frequent phenotypes and symptoms related to Emery-dreifuss Muscular Dystrophy 5, Autosomal Dominant; Edmd5
- Muscle weakness
- Ptosis
- Respiratory insufficiency
- Cardiomyopathy
- Congestive heart failure
- Arrhythmia
- Elevated serum creatine phosphokinase
- Proximal muscle weakness
- Muscular dystrophy
- Dilated cardiomyopathy
And another 5 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Emery-dreifuss Muscular Dystrophy 5, Autosomal Dominant; Edmd5 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation.
By Athena Diagnostics Inc (United States).
SYNE2, SYNE1, TMEM43, EMD, FHL1, LMNA
Specificity
17 %
Genes
100 % |
Muscular Dystrophy Advanced Evaluation.
By Athena Diagnostics Inc (United States).
SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5 , (...)
View the complete list with 13 more genes
Specificity
4 %
Genes
100 % |
Neuromuscular Disorders Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)
View the complete list with 124 more genes
Specificity
1 %
Genes
100 % |
Comprehensive Neuromuscular Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3 , (...)
View the complete list with 59 more genes
Specificity
2 %
Genes
100 % |
Limb-Girdle Muscular Dystrophy.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, VCP, CAPN3, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, COL6A1, COL6A2, COL6A3, GNE , (...)
View the complete list with 14 more genes
Specificity
3 %
Genes
100 % |
Neuromuscular Disorders Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...)
View the complete list with 91 more genes
Specificity
1 %
Genes
100 % |
Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis.
By Genetic Services Laboratory University of Chicago (United States).
RYR1, SELENON, SYNE2, SYNE1, COL6A1, COL6A2, COL6A3, TMEM43, KLHL40, EMD, LAMA2, LMNA, MYH7
Specificity
8 %
Genes
100 % |
Congenital Myopathy with Prominent Contractures Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
RYR1, SELENON, SYNE2, SYNE1, COL6A1, COL6A2, COL6A3, TMEM43, KLHL40, EMD, LAMA2, LMNA, MYH7
Specificity
8 %
Genes
100 % |
You can get up to 22 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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