Paediatric or syndromic cardiomyopathy
Gene: CASZ1
Comment on list classification: As reviewed by Ludmila Volozonoka, there is sufficient evidence available (three unrelated cases and some functional studies) for the promotion of this gene to green rating in the next GMS update.Created: 17 Apr 2024, 10:28 p.m. | Last Modified: 17 Apr 2024, 10:28 p.m.
Panel Version: 3.46
PMID:28099117 reported a patient with a novel heterozygous CASZ1 variant (p.K351X) and with dilated cardiomyopathy (DCM). The variant co-segregated with DCM, which was transmitted in an autosomal dominant pattern with complete penetrance. The functional characterisation of the variant with a luciferase reporter assay showed that the variant had no transcriptional activity.
PMID:31268246 reported the identification of a previously unreported de novo heterozygous frameshift variant (p.Val815Profs*14) in CASZ1 in an 11-month-old Chinese boy with DCM and left ventricular noncompaction cardiomyopathy (LVNC).
PMID:36293425 reported a girl with a new de novo frameshift variant (p.Trp1261GlyfsTer29) in CASZ1 gene. DCM was diagnosed for the first time at the age of three months and she died at the age of 1 year 10 months with a diagnosis of dilated cardiomyopathy and decompensation, systemic multiple organ failure, post-anoxic brain damage and gastrointestinal and vaginal bleeding.
This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.Created: 17 Apr 2024, 10:21 p.m. | Last Modified: 17 Apr 2024, 10:26 p.m.
Panel Version: 3.44
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
dilated cardiomyopathy, MONDO:0005021; left ventricular noncompaction, MONDO:0018901
Publications
Loss of Function variants described in patients with pediatric dilated cardiomyopathy, pediatric LVNC (36293425; 31268246). Our laboratory identified the LOF variant in a pediatric patient with LVNC.
The limited implication in congenital ventricular septal defect (27693370) - authors identified a missense variant.
Review article on CASZ1 (37509718).
Sources: LiteratureCreated: 6 Feb 2024, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pediatric Dilated Cardiomyopathy; Pediatric LVNC
Publications
Gene: casz1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CASZ1 were changed from Pediatric Dilated Cardiomyopathy; Pediatric LVNC to dilated cardiomyopathy, MONDO:0005021; left ventricular noncompaction, MONDO:0018901
Tag Q2_24_promote_green tag was added to gene: CASZ1.
gene: CASZ1 was added gene: CASZ1 was added to Paediatric or syndromic 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 Dilated Cardiomyopathy; Pediatric LVNC Review for gene: CASZ1 was set to GREEN