Table 4 The phenotypes of genes associated with left ventricular noncompaction in OMIM database
Location | Genes | Full name | Gene/locus MIM number | Phenotypes in OMIM |
|---|---|---|---|---|
12p12.1 | ABCC9 | ATP binding cassette subfamily C member 9 | 601439 | AF; DCM; hypertrichotic osteochondrodysplasia |
15q14 | ACTC1 | Actin alpha cardiac muscle 1 | 102540 | ASD; DCM; HCM; LVNC |
1q43 | ACTN2 | Actinin alpha 2 | 102573 | DCM; HCM; LVNC; myopathy |
4q25-q26 | ANK2 | Ankyrin 2 | 106410 | Cardiac arrhythmia; LQTs |
15q25.3 | ALPK3 | Alpha kinase 3 | 617608 | HCM |
20q13.13 | ARFGEF2 | ADP ribosylation factor guanine nucleotide exchange factor 2 | 605371 | Periventricular heterotopia with microcephaly |
10q26.11 | BAG3 | BAG cochaperone 3 | 603883 | DCM; myofibrillar myopathy |
7q34 | BRAF | B-Raf proto-oncogene, serine/threonine kinase | 164757 | Adenocarcinoma of lung, somatic; cardiofaciocutaneous syndrome; colorectal cancer, somatic; LEOPARD syndrome; melanoma, malignant, somatic; nonsmall cell lung cancer, somatic; Noonan syndrome |
2p13.3 | BMP10 | Bone morphogenetic protein 10 | 608748 | – |
7q21.11 | CACNA2D1 | Calcium voltage-gated channel auxiliary subunit alpha2delta 1 | – | – |
1p13.1 | CASQ2 | Calsequestrin 2 | 114251 | CPVT |
1p36.22 | CASZ1 | Castor zinc finger 1 | 609895 | – |
2q32.2 | COL3A1 | Collagen type III alpha 1 Chain | 120180 | Ehlers–Danlos syndrome, vascular type; polymicrogyria with or without vascular type Ehlers–Danlos syndrome |
2q35 | DES | Desmin | 125660 | DCM; myofibrillar yopathy; Scapuloperoneal syndrome, neurogenic, kaeser type |
18q12.1 | DSC2 | Desmocollin2 | 125645 | ACM; mild palmoplantar keratoderma and woolly hair |
6p24.3 | DSP | Desmoplakin | 125647 | ACM; DCM; woolly hair and keratoderma; keratoderma and tooth agenesis; epidermolysis bullosa, lethal acantholytic; keratosis palmoplantaris striata II; Skin fragility-woolly hair syndrome |
18q12.1 | DTNA | Dystrobrevin alpha | 601239 | LVNC; CHD |
Xq28 | EMD | Emerin | 300384 | Emery-Dreifuss muscular dystrophy |
15q21.1 | FBN1 | Fibrillin 1 | 134797 | Acromicric dysplasia; ectopia lentis, familial; geleophysic dysplasia; marfan lipodystrophy syndrome; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill–Marchesani syndrome |
20p13 | FKBP12 | FKBP prolyl isomerase 1A | 186945 | – |
9q31.2 | FKTN | Fukutin | 607440 | DCM; muscular dystrophy-dystroglycanopathy |
7q32.1 | FLNC | Filamin C | 102565 | HCM; RCM; distal myopathy; myofibrillar myopathy |
2p23.3 | HADHB | Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | 143450 | Trifunctional protein deficiency |
15q24.1 | HCN4 | Hyperpolarization activated cyclic nucleotide gated potassium channel 4 | 605206 | Brugada syndrome; SSS |
6q22.31 | HEY2 | Hes related family bHLH transcription factor with YRPW motif 2 | 604674 | – |
6p22.3 | JARID2 | Jumonji and AT-rich interaction domain containing 2 | – | – |
8p23.1 | GATA4 | GATA binding protein 4 | 600576 | Testicular anomalies with or without congenital heart disease; ASD; VSD; TOF |
11p15.5-p15.4 | KCNQ1 | Potassium voltage-gated channel subfamily Q member 1 | 607542/604115 | LQTs; SQTs; AF; Jervell and Lange–Nielsen syndrome; Beckwith–Wiedemann syndrome |
7q36.1 | KCNH2 | Potassium voltage-gated channel subfamily H member 2 | 152427 | LQTs |
Xq24 | LAMP2 | Lysosomal associated membrane protein 2 | 309060 | Danon disease |
10q23.2 | LDB3 | LIM domain binding 3 | 605906 | DCM; HCM; LVNC; myofibrillar myopathy |
1q22 | LMNA | lamin A/C | 150330 | DCM; RCM; Charcot-Marie-Tooth disease; Emery-Dreifuss muscular dystrophy; Heart-hand syndrome; Hutchinson-Gilford progeria; lipodystrophy; Malouf syndrome; mandibuloacral dysplasia; muscular dystrophy |
15q26.3 | MEF2A | Myocyte enhancer factor 2A | 600660 | Coronary artery disease |
1p34.1 | MMACHC | Metabolism of cobalamin associated C | 609831 | Methylmalonic aciduria and homocystinuria |
18q11.2 | MIB1 | MIB E3 ubiquitin protein ligase 1 | 608677 | LVNC |
1p36.33 | MIB2 | MIB E3 ubiquitin protein ligase 2 | 611141 | – |
13q12.12 | MIPEP | Mitochondrial intermediate peptidase | 602241 | Combined oxidative phosphorylation deficiency |
11p11.2 | MYBPC3 | Myosin binding protein C3 | 600958 | DCM; HCM; LVNC |
16q23.3 | MLYCD | Malonyl-CoA decarboxylase | 606761 | Malonyl-CoA decarboxylase deficiency |
14q11.2 | MYH7 | Myosin heavy chain 7 | 160760 | DCM; HCM; LVNC; laing distal myopathy; myopathy, myosin storage; Scapuloperoneal syndrome |
20q11.21 | MYLK2 | Myosin light chain kinase 2 | 606566 | HCM |
5q31.2 | MYOT | Myotilin | 604103 | Myofibrillar myopathy; myopathy, spheroid body |
10p12.31 | NEBL | Nebulette | 605491 | – |
5q35.1 | NKX2.5 | NK2 homeobox 5 | 600584 | ASD; AVB; conotruncal heart malformations; Hypoplastic left heart syndrome; hypothyroidism, congenital nongoitrous; TOF; VSD |
1p31.1 | NEXN | Nexilin F-actin binding protein | 613121 | DCM; HCM |
5p12 | NNT | Nicotinamide nucleotide transhydrogenase | 607878 | Glucocorticoid deficiency with or without mineralocorticoid deficiency |
Xq13.1 | NONO | Non-POU domain containing octamer binding | 300084 | Mental retardation |
8p12 | NRG1 | Neuregulin 1 | 142445 | Schizophrenia |
5q35.3 | NSD1 | Nuclear receptor binding SET domain protein 1 | 606681 | Sotos syndrome |
1q42.13 | OBSCN | Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | – | – |
4q35.1 | PDLIM3 | PDZ and LIM domain 3 | – | – |
12p11.21 | PKP2 | Plakophilin 2 | 602861 | ACM |
1p36.21 | PLEKHM2 | Pleckstrin homology and RUN domain containing M2 | 609613 | – |
3q22.1 | PLXND1 | Plexin D1 | 604282 | – |
6q22.31 | PLN | Phospholamban | 172405 | HCM; DCM |
1p36.32 | PRDM16 | PR/SET domain 16 | 605557 | DCM; LVNC |
12q24.13 | PTPN11 | Protein tyrosine phosphatase non-receptor type 11 | 176876 | LEOPARD syndrome; leukemia, juvenile myelomonocytic, somatic; metachondromatosis; Noonan syndrome |
10q25.2 | RBM20 | RNA binding motif protein 20 | 613171 | DCM |
Xp22.12 | RPS6KA3 | Ribosomal protein S6 kinase A3 | 300075 | Coffin–Lowry syndrome; mental retardation |
1q43 | RYR2 | Ryanodine receptor 2 | 180902 | ACM; CPVT |
3p22.2 | SCN5A | Sodium voltage-gated channel alpha subunit 5 | 600163 | Sudden infant death syndrome; AF; Brugada syndrome; DCM; LQTs; SSS; VF |
11q23.1 | SDHD | Succinate dehydrogenase complex subunit D | 602690 | Mitochondrial complex II deficiency; araganglioma and gastric stromal sarcoma; paragangliomas with or without deafness |
16p11.2 | SH2B1 | SH2B adaptor protein 1 | 608937 | – |
4q24 | SLC39A8 | Solute carrier family 39 member 8 | 608732 | Congenital disorder of glycosylation |
Xp11.22 | SMC1A | Structural maintenance of chromosomes 1A | 300040 | Cornelia de Lange syndrome; developmental and epileptic encephalopathy, with or without midline brain defects |
15q24.1 | STRA6 | Signaling receptor and transporter of retinol STRA6 | 610745 | Microphthalmia with coloboma; Microphthalmia, syndromic |
X A7.3; X 37.95Â cM | TAZ | Tafazzin | 300394 | Barth syndrome |
12q24.21 | TBX5 | T-box transcription factor 5 | 601620 | Holt–Oram syndrome |
7p14.2 | TBX20 | T-box transcription factor 20 | 606061 | ASD |
3p25.1 | TMEM43 | Transmembrane protein 43 | 612048 | ACM; Emery-Dreifuss muscular dystrophy |
8q21.11 | TMEM70 | Transmembrane protein 70 | 612418 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type |
3p21.1 | TNNC1 | Troponin C1, slow skeletal and cardiac type | 191040 | DCM; HCM |
19q13.42 | TNNI3 | Troponin I3, cardiac type | 191044 | DCM; RCM; HCM |
1q32.1 | TNNT2 | Troponin T2, cardiac type | 191045 | DCM; RCM; HCM; LVNC |
15q22.2 | TPM1 | tropomyosin 1 | 191010 | DCM; HCM; LVNC |
2q31.2 | TTN | Titin | 188840 | DCM; HCM; muscular dystrophy, limb-girdle; myofibrillar myopathy with early respiratory failure; salih myopathy; tibial muscular dystrophy, tardive |
17p13.3 | YWHAE | Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | 605066 | – |