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Cardiomyopathies - including childhood onset

Gene: MCM10

Red List (low evidence)

MCM10 (minichromosome maintenance 10 replication initiation factor)
EnsemblGeneIds (GRCh38): ENSG00000065328
EnsemblGeneIds (GRCh37): ENSG00000065328
OMIM: 609357, Gene2Phenotype
MCM10 is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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
Created: 17 Apr 2021, 7:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Restrictive cardiomyopathy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Restrictive cardiomyopathy, MONDO:0005201
OMIM
609357
Clinvar variants
Variants in MCM10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mcm10 has been classified as Red List (Low Evidence).

20 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MCM10 were changed from Restrictive cardiomyopathy to Restrictive cardiomyopathy, MONDO:0005201

17 Apr 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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