1. Panels
  2. Combined Immunodeficiency
  3. MCM10
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Combined Immunodeficiency

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

Bryony Thompson (Royal Melbourne Hospital)

I don't know

2 families reported with supporting functional studies
Moderate gene-disease classification - https://search.clinicalgenome.org/CCID:008284
Sources: Expert list
Created: 10 Nov 2024, 7:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 80 with or without congenital cardiomyopathy MONDO:0030266

Created: 10 Nov 2024, 7:02 a.m.

Panel version: 1.93

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency 80 with or without congenital cardiomyopathy MONDO:0030266
OMIM
609357
Clinvar variants
Variants in MCM10
Penetrance
None
Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

10 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

10 Nov 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MCM10 was added gene: MCM10 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: MCM10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCM10 were set to Immunodeficiency 80 with or without congenital cardiomyopathy MONDO:0030266 Review for gene: MCM10 was set to AMBER