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  2. Left Ventricular Noncompaction Cardiomyopathy
  3. CASZ1
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Left Ventricular Noncompaction Cardiomyopathy

Gene: CASZ1

No list
CASZ1 (castor zinc finger 1)
EnsemblGeneIds (GRCh38): ENSG00000130940
EnsemblGeneIds (GRCh37): ENSG00000130940
OMIM: 609895, Gene2Phenotype
CASZ1 is in 2 panels

1 review

Ludmila Volozonoka (Children's Clinical University Hospital)

Green List (high evidence)

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
Created: 6 Feb 2024, 10:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pediatric Cardiomyopathy; Pediatric LVNC

Publications

Created: 6 Feb 2024, 10:29 a.m.

Panel version: 1.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Pediatric Cardiomyopathy
  • Pediatric LVNC
OMIM
609895
Clinvar variants
Variants in CASZ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ludmila Volozonoka (Children's Clinical University Hospital)

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