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STRs in panel
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Primary immunodeficiency

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

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Relevant phenotype for this panel, but additional cases required to validate pathogenicity.
Created: 17 Sep 2020, 2:52 p.m. | Last Modified: 17 Sep 2020, 2:52 p.m.
Panel Version: 2.187

Boaz Palterer (University of Florence)

I don't know

Compound heterozygous variants in minichromosomal maintenance complex member 10 (MCM10) were reported as a cause of NK-cell deficiency in a child with fatal susceptibility to CMV.
Sources: Literature
Created: 2 Sep 2020, 7:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NK Cell deficiency; primary Immunodeficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
OMIM
609357
Clinvar variants
Variants in MCM10
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

17 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

2 Sep 2020, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: MCM10 was added gene: MCM10 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: MCM10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCM10 were set to 32865517 Penetrance for gene: MCM10 were set to unknown Review for gene: MCM10 was set to AMBER