Cardiomyopathy_Paediatric
Gene: CASZ1EnsemblGeneIds (GRCh38): ENSG00000130940
EnsemblGeneIds (GRCh37): ENSG00000130940
OMIM: 609895, Gene2Phenotype
CASZ1 is in 2 panels
1 review
Ivan Macciocca (Victorian Clinical Genetics Services)
rare cause of paeditric onsent DCM.
at least 3 papers report LoF variants, 2 of which each report a novel de novo frameshift variant in children diagnosed with DCM less than 1 and who died at 11 mths ( PMID: 31268246; Guo 2019) and 22mths (PMID: 36293425, Orlova 2022). Another paper (PMID: 28099117, Qiu 2017) reported a nonsense variant that segregated with DCM in a family in an AD fashion (full text not available).
Sources: LiteratureCreated: 8 Feb 2024, 12:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
dilated cardiomyopathy, left ventricular non compaction
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dilated cardiomyopathy, MONDO:0005021, CASZ1-related
- left ventricular non compaction
- OMIM
- 609895
- Clinvar variants
- Variants in CASZ1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: casz1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CASZ1 were changed from dilated cardiomyopathy, left ventricular non compaction to Dilated cardiomyopathy, MONDO:0005021, CASZ1-related; left ventricular non compaction
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: casz1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ivan Macciocca (Victorian Clinical Genetics Services)gene: CASZ1 was added gene: CASZ1 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: CASZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CASZ1 were set to PMID: 28099117; 36293425; 31268246 Phenotypes for gene: CASZ1 were set to dilated cardiomyopathy, left ventricular non compaction Penetrance for gene: CASZ1 were set to unknown Review for gene: CASZ1 was set to GREEN