Emery-dreifuss Muscular Dystrophy 7, Autosomal Dominant; Edmd7

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011).For a discussion of genetic heterogeneity of EDMD, see {310300}.

Genes related to Emery-dreifuss Muscular Dystrophy 7, Autosomal Dominant; Edmd7

TMEM43

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Clinical Features

Top most frequent phenotypes and symptoms related to Emery-dreifuss Muscular Dystrophy 7, Autosomal Dominant; Edmd7

Muscle weakness
Flexion contracture
Cardiomyopathy
Arrhythmia
Proximal muscle weakness
Muscular dystrophy
Atrial fibrillation
Progressive muscle weakness
Bradycardia
Neck muscle weakness

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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 7, Autosomal Dominant; Edmd7 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 Panel complete gene list SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5, DES, TMEM43, SMCHD1, DMD, DYSF, EMD, FKTN, FHL1, ISPD, LMNA, PLEC, POMT1, CAVIN1 Specificity 4 % Genes 100 %
Comprehensive Cardiac Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...) View the complete list with 86 more genes Panel complete gene list RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, CACNA1C, CACNA2D1, PRDM16, CACNB2, JPH2, ACTC1, CALM1, CALM2, CASQ2, CAV3, CBL, SHOC2, LDB3, ANKRD1, MYLK2, ACTN2, SLMAP, HCN4, NEBL, RANGRF, TRPM4, FKRP, MTO1, SCN3B, MYPN, DOLK, CRYAB, CSRP3, NKX2-5, TMEM70, RBM20, DES, TMEM43, GPD1L, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, DTNA, AGL, EMD, FKTN, FHL1, AKAP9, GAA, ALMS1, GLA, ANK2, HRAS, ABCC9, ILK, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LMNA, MAP2K1, MAP2K2, MYBPC3, MYH6, MYH7, MYL2, MYL3, NRAS, PKP2, PLN, ACADVL, PRKAG2, BAG3, PTPN11, RAF1 Specificity 1 % 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 Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, UBA1, VCP, VRK1, ACTA1, RXYLT1, FBXL4, CACNA1S, SLC5A7, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, BSCL2, SELENON, LIMS2, MGME1, TRIM32, FIG4, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, BICD2, RRM2B, FKRP, TRPV4, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, AGK, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, GNE, CRYAB, SIL1, LAS1L, TRAPPC11, REEP1, POMGNT2, MTMR14, POMK, DOK7, DAG1, DCTN1, ANO5, DES, STAC3, TMEM43, B3GALNT2, SMCHD1, PLEKHG5, DMD, TOR1AIP1, DYNC1H1, MEGF10, DNM2, DNMT1, DPM1, DPM2, DPM3, HSPB8, KLHL40, PNPLA2, DYSF, TYMP, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GAN, GARS, GLE1, SETX, AMPD1, HINT1, HNRNPDL, HSPB1, IGHMBP2, ITGA7, LAMA2, LAMP2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYF6, MYH2, MYH7, NEB, ATP2A1, PABPN1, ATP7A, PHKA1, PLEC, PMM2, POLG, POLG2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 1 % Genes 100 %
Dilated & Arrhythmogenic Cardiomyopathies Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...) View the complete list with 31 more genes Panel complete gene list RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL, MYPN, DOLK, CRYAB, CSRP3, RBM20, DES, TMEM43, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, DTNA, EMD, GLA, JUP, LAMA4, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, BAG3, PTPN11, RAF1 Specificity 2 % Genes 100 %
Test for Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). TMEM43 Specificity 100 % Genes 100 %
ARVC panel. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). TMEM43, DSC2, DSG2, DSP, PKP2 Specificity 20 % Genes 100 %
Arrhythmogenic right ventricular cardiomyopathy - full panel. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada). RYR2, TMEM43, DSC2, DSG2, DSP, JUP, PKP2 Specificity 15 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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