Genopathy
Gene-Disorder Association · Article
Gene
TAMM41
TAM41 Mitochondrial Translocator Assembly And Maintenance Homolog
Disorder
Combined Oxidative Phosphorylation Deficiency 56
First reported 1981
Supporting publications 1
Key publication · disorder Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy.Archives of disease in childhood · 1981
Manually curated
Association Review

In brief

The association between TAMM41 (TAM41 Mitochondrial Translocator Assembly And Maintenance Homolog) and Combined Oxidative Phosphorylation Deficiency 56 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 8
Symptoms 32
Compounds 0
Trials 0
Publications 1
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

3 sources

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

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03
TAMM41

The gene

1 source summary

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

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04
Combined Oxidative Phosphorylation Deficiency 56

The disorder

7 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

20 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

8 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

1 publication

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

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09
Provenance

References & sources

6 references

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

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