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| Left Ventricular Noncompaction Cardiomyopathy v1.4 | CASZ1 |
Ludmila Volozonoka gene: CASZ1 was added gene: CASZ1 was added to Left Ventricular Noncompaction Cardiomyopathy. Sources: Literature Mode of inheritance for gene: CASZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CASZ1 were set to 36293425; 31268246; 28099117; 27693370; 37509718 Phenotypes for gene: CASZ1 were set to Pediatric Cardiomyopathy; Pediatric LVNC Review for gene: CASZ1 was set to GREEN Added comment: Loss of Function variants described in patients with pediatric dilated cardiomyopathy, pediatric LVNC (36293425; 31268246), as well as in adults (28099117). The limited implication in congenital ventricular septal defect (27693370) - authors identified a missense variant. Review article on CASZ1 (37509718). Our laboratory identified LOF variant in a pediatric patient with LVNC. Sources: Literature |
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