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| Paediatric or syndromic cardiomyopathy v1.32 | MCM10 | Ivone Leong Classified gene: MCM10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.32 | MCM10 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. Currently, there is not enough evidence to support a gene-disease association. Therefore this gene has been given a Red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.32 | MCM10 | Ivone Leong Gene: mcm10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.31 | MCM10 | Ivone Leong Phenotypes for gene: MCM10 were changed from Restrictive cardiomyopathy to Restrictive cardiomyopathy, MONDO:0005201 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.30 | MCM10 |
Zornitza Stark gene: MCM10 was added gene: MCM10 was added to Cardiomyopathies - including childhood onset. Sources: Literature Mode of inheritance for gene: MCM10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCM10 were set to 33712616 Phenotypes for gene: MCM10 were set to Restrictive cardiomyopathy Review for gene: MCM10 was set to RED Added comment: PMID 33712616: three affected sibs with restrictive cardiomyopathy and hypoplasia of the spleen and thymus. Functional data suggested that MCM10 deficiency causes chronic replication stress that reduces cell viability due to increased genomic instability and telomere erosion. Sources: Literature |
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