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| Paediatric or syndromic cardiomyopathy v7.9 | ASNA1 |
Achchuthan Shanmugasundram changed review comment from: As reviewed by Dmitrijs Rots, 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.; to: 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. |
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| Paediatric or syndromic cardiomyopathy v7.9 | ASNA1 | Achchuthan Shanmugasundram Classified gene: ASNA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.9 | ASNA1 | Achchuthan Shanmugasundram Gene: asna1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.8 | ASNA1 | Achchuthan Shanmugasundram Phenotypes for gene: ASNA1 were changed from Rapidly Progressive Pediatric Cardiomyopathy to ?Cardiomyopathy, dilated, 2H, OMIM:620203 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.7 | ASNA1 | Achchuthan Shanmugasundram Publications for gene: ASNA1 were set to PMID: 31461301 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.6 | ASNA1 | Achchuthan Shanmugasundram reviewed gene: ASNA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31461301; Phenotypes: ?Cardiomyopathy, dilated, 2H, OMIM:620203; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v6.5 | ASNA1 |
Dmitrijs Rots 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 Added comment: 3 families with functional evidence described in PMID: 31461301 Sources: Literature |
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