Paediatric or syndromic cardiomyopathy
Gene: ASNA1EnsemblGeneIds (GRCh38): ENSG00000198356
EnsemblGeneIds (GRCh37): ENSG00000198356
OMIM: 601913, Gene2Phenotype
ASNA1 is in 1 panel
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
PMID:31461301 reported the identification of compound heterozygous variants in two siblings with early infantile-onset, rapidly progressive dilated cardiomyopathy. There were two variants reported on the paternal allele (p.Cys289Trp and p.Gln305Ter) and one variant on the maternal allele (p.Val163Ala). Unaffected sibling was heterozygous for maternal allele.
Functional studies showed that Val163Ala variant leads to protein misfolding as well as less effective tail-anchored protein insertion. Loss of asna1 in zebrafish resulted in reduced cardiac contractility and early lethality. In contrast to wild-type mRNA, injection of either mutant mRNA failed to rescue this phenotype.
As there is only one case and functional evidence available in support of this association, this gene can only be rated amber now.Created: 22 Jul 2025, 10:58 a.m. | Last Modified: 22 Jul 2025, 11:01 a.m.
Panel Version: 7.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Cardiomyopathy, dilated, 2H, OMIM:620203
Publications
Dmitrijs Rots (Children's Clinical University Hospital)
3 families with functional evidence described in PMID: 31461301
Sources: LiteratureCreated: 11 Feb 2025, 11:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rapidly Progressive Pediatric Cardiomyopathy
Publications
- PMID: 31461301
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- ?Cardiomyopathy, dilated, 2H, OMIM:620203
- OMIM
- 601913
- Clinvar variants
- Variants in ASNA1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: asna1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ASNA1 were changed from Rapidly Progressive Pediatric Cardiomyopathy to ?Cardiomyopathy, dilated, 2H, OMIM:620203
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ASNA1 were set to PMID: 31461301
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Dmitrijs Rots (Children's Clinical University Hospital)gene: ASNA1 was added gene: ASNA1 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature Mode of inheritance for gene: ASNA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASNA1 were set to PMID: 31461301 Phenotypes for gene: ASNA1 were set to Rapidly Progressive Pediatric Cardiomyopathy Review for gene: ASNA1 was set to AMBER