Genopathy
Gene-Disorder Association · Article
Gene
MCM10
Minichromosome Maintenance 10 Replication Initiation Factor
Disorder
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
First reported 2020
Supporting publications 2
Key publication · gene–disorder Human NK cell deficiency as a result of biallelic mutations in MCM10.The Journal of clinical investigation · 2020
Key publication · disorder Mcm10 deficiency causes defective-replisome-induced mutagenesis and a dependency on error-free postreplicative repair.Cell cycle (Georgetown, Tex.) · 2014
Manually curated
Association Review

In brief

The association between MCM10 (Minichromosome Maintenance 10 Replication Initiation Factor) and Immunodeficiency 80 With Or Without Congenital Cardiomyopathy is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 7
Symptoms 37
Compounds 0
Trials 0
Publications 2
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
MCM10

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy

The disorder

6 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

19 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

7 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

2 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

8 references

Every source and publication cited across this dossier, as one numbered reference list.

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