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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Genes considered clinically relevant for dilated cardiomyopathy

Genes considered clinically relevant for dilated cardiomyopathy
Gene Protein OMIM Estimated fraction of DCM Reference*
Strongest evidence
LMNA Lamin A/C 150330 0.06 [1-14]
MYH7 Beta-myosin heavy chain 160760 0.04 [15-18]
TNNT2 Cardiac troponin T 191045 0.03 [15,17-23]
RBM20 (hotspot)Δ RNA binding protein 20 613171 0.02 [24,25]
Strong evidence
TTN – truncating variants Titin 188840 0.15 to 0.20 [26-32]
BAG3 BCL-associated athanogene 3 603883 0.03 [33-35]
SCN5A Sodium channel 600163 0.02 [18,36,37]
FLNC Filamin C 102565 0.02 to 0.04 [38,39]
TPM1 Alpha-tropomyosin 191010 <0.01 [40-42]
PLN Phospholamban 172405 <0.01 [17,43-47]
TNNC1 Cardiac troponin C 191040 <0.01 [21,41,48]
TNNI3 Cardiac troponin I 191044 <0.01 [41,49,50]
EYA4 Eyes-absent 4 603550 ? [51]
Variable evidence
MYPN Myopalladin 608517 0.03 [52]
MYBPC3 Myosin-binding protein C 600958 0.02 [16,41]
MYH6 Alpha-myosin heavy chain 160710 0.04 [41,53]
LAMA4 Laminin alpha-4 600133 <0.01 [54]
VCL Metavinculin 193065 <0.01 [17,55]
LDB3 Cypher/ZASP 605906 <0.01 [18,56]
TCAP Titin-cap or telethonin 604488 <0.01 [18,57]
ACTN2 Alpha-actinin-2 102573 <0.01 [58]
CRYAB Alpha B crystalin 123590 <0.01 [59]
RBM20 (non-hotspot) RNA binding protein 20 613171 ? [25]
ABCC9 SUR2A 601439 <0.01 [60]
ACTC1 Cardiac actin 102540 <0.01 [61-66]
PDLIM3 PDZ LIM domain protein 3 605889 <0.01 [67]
ILK Integrin-linked kinase 602366 <0.01 [54]
SGCD Delta-sarcoglycan 601411 <0.01 [68-70]
DES Desmin 125660 <0.01 [64,69,71]
CSRP3 Muscle LIM protein 600824 <0.01 [18,72]
ANKRD1 Ankyrin repeat domain-containing protein 1 609599 ? [73,74]
NEXN Nexilin 613121 ? [75]
NEBL Nebulette 605491 ? [76]
ARVC genes
DSP Desmoplakin 125660 ? [77-81]
PKP2 Plakophilin 2 602861 ? [77-79]
DSG2 Desmoglein 2 125671 ? [77-79]
DSC2 Desmocollin 2  125645   ?  [82] 
Genes have been categorized based on strength of evidence.
OMIM: Online Mendelian Inheritance in Man; DCM: dilated cardiomyopathy; ARVC: arrhythmogenic right ventricular cardiomyopathy.
* References not necessarily exhaustive, especially on genes with strongest or strong evidence. Syndromic genes (eg, TAZ, DMD) not included.
¶ Most variants shown to be DCM disease-causing have been rare missense variants.
Δ Restricted to the RBM20 6 amino acid hotspot.
References:
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Adapted from: Kinnamon DD, Morales A, Bowen DJ, et al. Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study. Circ Cardiovasc Genet 2017; 10:e001826. DOI: 10.1161/CIRCGENETICS.117.001826. Copyright © 2017 American Heart Association. Reproduced with permission from Wolters Kluwer Health. Unauthorized reproduction of this material is prohibited.
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