{ "url": "https://dantelabs.com/el/genes/myzap", "gene": { "slug": "myzap", "symbol": "MYZAP", "name": "myocardial zonula adherens protein", "hgnc": "HGNC:43444", "summary": null, "location": "15q21.3", "locusType": "gene with protein product", "aliases": [ "MYOZAP", "Gup", "Gup1", "GCOM1" ], "previousSymbols": [], "ensemblId": "ENSG00000263155", "entrezId": 100820829, "omim": [ "614071" ], "uniprot": [ "P0CAP1" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 57591904, "end": 57685364, "strand": "+", "ensemblTranscript": "ENST00000267853.10", "refseqTranscript": "NM_001018100.5", "ensemblProtein": "ENSP00000267853.5", "refseqProtein": "NP_001018110.1", "exons": [ { "start": 57591904, "end": 57592109 }, { "start": 57604269, "end": 57604355 }, { "start": 57618033, "end": 57618188 }, { "start": 57621608, "end": 57621700 }, { "start": 57625779, "end": 57625892 }, { "start": 57629702, "end": 57629854 }, { "start": 57632434, "end": 57632559 }, { "start": 57633613, "end": 57633741 }, { "start": 57637695, "end": 57637774 }, { "start": 57639440, "end": 57639545 }, { "start": 57661450, "end": 57661533 }, { "start": 57674968, "end": 57675068 }, { "start": 57684402, "end": 57685364 } ], "cds": { "start": 57592035, "end": 57684498 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "15", "start": 57884139, "end": 57977562, "strand": "+" }, "neighbourhood": { "release": "116", "start": 57138634, "end": 58138633, "genes": [ { "symbol": "TCF12", "ensemblId": "ENSG00000140262", "biotype": "protein_coding", "start": 56918099, "end": 57299707, "strand": "+", "slug": "tcf12" }, { "symbol": "CGNL1", "ensemblId": "ENSG00000128849", "biotype": "protein_coding", "start": 57375967, "end": 57551742, "strand": "+", "slug": "cgnl1" }, { "symbol": "GCOM1", "ensemblId": "ENSG00000137878", "biotype": "protein_coding", "start": 57591908, "end": 57714745, "strand": "+", "slug": "gcom1" }, { "symbol": "POLR2M", "ensemblId": "ENSG00000255529", "biotype": "protein_coding", "start": 57706641, "end": 57782762, "strand": "+", "slug": "polr2m" }, { "symbol": "ALDH1A2", "ensemblId": "ENSG00000128918", "biotype": "protein_coding", "start": 57953424, "end": 58497866, "strand": "-", "slug": "aldh1a2" }, { "symbol": "AQP9", "ensemblId": "ENSG00000103569", "biotype": "protein_coding", "start": 58138169, "end": 58185915, "strand": "+", "slug": "aqp9" } ], "truncated": false }, "reports": [ { "slug": "dilated-cardiomyopathy", "name": "Διατατική Καρδιομυοπάθεια", "diseases": [ { "mondoId": "MONDO:0005021", "name": "Διατατική Καρδιομυοπάθεια", "genes": 50, "inheritance": null, "description": "Διεύρυνση και αποδυνάμωση της αριστερής κοιλίας που δεν εξηγούνται από νόσο των στεφανιαίων αρτηριών ή των βαλβίδων. Οι κληρονομικές μορφές εμπλέκουν τα γονίδια TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN και πολλά άλλα γονίδια, και περιλαμβάνουν το σύνδρομο Barth και τις μυοπάθειες Emery-Dreifuss.", "management": "Η γνώση μιας γενετικής αιτίας στηρίζει την επισταμένη παρακολούθηση της καρδιάς και τον έλεγχο των συγγενών. Για γονίδια με υψηλό κίνδυνο αρρυθμιών, όπως τα LMNA, FLNC και RBM20, βοηθά στη λήψη αποφάσεων σχετικά με την παρακολούθηση του ρυθμού και τους εμφυτεύσιμους απινιδωτές.", "evidence": { "gencc": [ "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/el/conditions/dilated-cardiomyopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "elevated-circulating-nt-probnp-concentration", "name": "Elevated circulating NT-proBNP concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-nt-probnp-concentration" }, { "slug": "premature-ventricular-contraction", "name": "Extra heart beat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/premature-ventricular-contraction" }, { "slug": "mildly-reduced-left-ventricular-ejection-fraction", "name": "Mildly reduced left ventricular ejection fraction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mildly-reduced-left-ventricular-ejection-fraction" }, { "slug": "moderately-reduced-left-ventricular-ejection-fraction", "name": "Moderately reduced left ventricular ejection fraction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/moderately-reduced-left-ventricular-ejection-fraction" }, { "slug": "myocardial-fibrosis", "name": "Myocardial fibrosis", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/myocardial-fibrosis" }, { "slug": "palpitations", "name": "Palpitations", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/palpitations" }, { "slug": "severely-reduced-left-ventricular-ejection-fraction", "name": "Severely reduced left ventricular ejection fraction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/severely-reduced-left-ventricular-ejection-fraction" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "slug": "ventricular-tachycardia", "name": "Ventricular tachycardia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventricular-tachycardia" } ], "related": [ { "slug": "abcc9", "symbol": "ABCC9", "name": "ATP binding cassette subfamily C member 9", "shared": 1, "url": "https://dantelabs.com/el/genes/abcc9" }, { "slug": "actc1", "symbol": "ACTC1", "name": "actin alpha cardiac muscle 1", "shared": 1, "url": "https://dantelabs.com/el/genes/actc1" }, { "slug": "bag3", "symbol": "BAG3", "name": "BAG cochaperone 3", "shared": 1, "url": "https://dantelabs.com/el/genes/bag3" }, { "slug": "bag5", "symbol": "BAG5", "name": "BAG cochaperone 5", "shared": 1, "url": "https://dantelabs.com/el/genes/bag5" }, { "slug": "des", "symbol": "DES", "name": "desmin", "shared": 1, "url": "https://dantelabs.com/el/genes/des" }, { "slug": "dmd", "symbol": "DMD", "name": "dystrophin", "shared": 1, "url": "https://dantelabs.com/el/genes/dmd" }, { "slug": "dolk", "symbol": "DOLK", "name": "dolichol kinase", "shared": 1, "url": "https://dantelabs.com/el/genes/dolk" }, { "slug": "emd", "symbol": "EMD", "name": "emerin", "shared": 1, "url": "https://dantelabs.com/el/genes/emd" }, { "slug": "fhl1", "symbol": "FHL1", "name": "four and a half LIM domains 1", "shared": 1, "url": "https://dantelabs.com/el/genes/fhl1" }, { "slug": "fktn", "symbol": "FKTN", "name": "fukutin", "shared": 1, "url": "https://dantelabs.com/el/genes/fktn" }, { "slug": "flii", "symbol": "FLII", "name": "FLII actin remodeling protein", "shared": 1, "url": "https://dantelabs.com/el/genes/flii" }, { "slug": "flnc", "symbol": "FLNC", "name": "filamin C", "shared": 1, "url": "https://dantelabs.com/el/genes/flnc" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }