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Table 2 Known Familial Dilated Cardiomyopathy (FDC) genes and their OMIM references

From: Cardiomyopathy, familial dilated

Phenotype Frequency (%) Chromosomal location Locus OMIM [40] Gene symbol Gene
Autosomal dominant FDC 56 1q32 CMD1D 191045 TNNT2 Cardiac troponin T
   3p21.1   191040 TNNC1 Cardiac troponin C
   2q31 CMD1G 188840 TTN Titin
   2q35 CMD1I 125660 DES Desmin
   6q12-q16 CMD1K 172405 PLN Phospholamban
   9 CMD1B 600884   
   10q21-q23 CMD1C 193065 VCL Metavinculin
   11p11   600958 MYBPC3 Myosin-binding protein C
   11p15.1 CMD1M 600824 CSRP3 Cysteine-glycine-rich protein 3
   14q11.2-13 CMD1A 160760 MYH7 Cardiac β-myosin heavy chain
   15q14 CMD1A 102540 ACTC Cardiac actin
   15q22.1   191010 TPM1 α -tropomyosin
   17q12 CMD1N 604488 TCAP Tinin-cap (teletonin)
   10q23.2   605906 LDB3 Cypher/ZASP
   12p12.1   601439 ABCC9 Regulatory SUR2A subunit of cardiac KATP channel
Autosomal recessive FDC 16 19q13.42   191044 TNNI3 Cardiac troponin I
   unknown   212110   
X-linked DCM 10 Xp21 XLCM 300377 DMD Dystrophin
Autosomal dominant FDC 7.7 1q11-q23 LGMD1B 150330 LMNA Lamin A/C
with skeletal muscle disease   5q33-34 LGMD2F 601411 SGCD δ-sarcoglycan
   4q11 LGMD2E 600900 SGCB β-sarcoglycan
   6q23 CMD1F 602067   
Autosomal dominant FDC 2.6 1q1-q1 CMD1A 150330 LMNA Lamin A/C
with conduction defects   2q14-q22 CMD1H 604288   
   3p22.2 CMD1E 600163 SCN5A Na channel, voltage-gated, type V, α polypeptide
RareFDC: 7.7      
-Left ventricular non-compaction   Xq28   300069 TAZ G4.5 (tafazzin)
   18q12.1-q12.2   601239 DTNA α -dystrobrevin
   10q23.2   605906 LDB3 Cypher/ZASP
-Autosomal recessive with retinitis pigmentosa and deafness   6q23-q24 CMD1J 605362 EYA4 Transcriptional coactivator EYA4
-Autosomal recessive with wooly hair and keratoderma   6p24   125647 DSP Desmoplakin
X-linked congenital DCM   Xq28   300069 TAZ G4.5 (tafazzin)
Mitochondrial DCM   mtDNA   510000