Cardiomyopathies - including childhood onsetGene: MCM10
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.
Created: 20 Apr 2021, 9:04 a.m. | Last Modified: 20 Apr 2021, 9:04 a.m.
Panel Version: 1.32
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.
Created: 17 Apr 2021, 7:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: mcm10 has been classified as Red List (Low Evidence).
Phenotypes for gene: MCM10 were changed from Restrictive cardiomyopathy to Restrictive cardiomyopathy, MONDO:0005201
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