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  3. MCM10
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Cardiomyopathy_Paediatric

Gene: MCM10

Amber List (moderate evidence)
MCM10 (minichromosome maintenance 10 replication initiation factor)
EnsemblGeneIds (GRCh38): ENSG00000065328
EnsemblGeneIds (GRCh37): ENSG00000065328
OMIM: 609357, Gene2Phenotype
MCM10 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Upgraded due to functional evidence.
Created: 28 Jul 2022, 10:19 p.m. | Last Modified: 28 Jul 2022, 10:19 p.m.
Panel Version: 0.132
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: 2 Apr 2021, 7 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313; Restrictive cardiomyopathy

Publications

Created: 2 Apr 2021, 7 a.m.

Panel version: 0.132

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313
  • Restrictive cardiomyopathy
OMIM
609357
Clinvar variants
Variants in MCM10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcm10 has been classified as Amber List (Moderate Evidence).

12 May 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MCM10 were changed from Restrictive cardiomyopathy to Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313; Restrictive cardiomyopathy

2 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Apr 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MCM10 was added gene: MCM10 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: MCM10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCM10 were set to 32865517; 33712616 Phenotypes for gene: MCM10 were set to Restrictive cardiomyopathy Review for gene: MCM10 was set to RED