Genopathy
Gene-Disorder Association · Article
Gene
TIMM8A
Translocase Of Inner Mitochondrial Membrane 8A
Disorder
Leukoencephalopathy, Progressive, With Ovarian Failure
First reported 2004
Key publication · disorder Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.European journal of human genetics : EJHG · 2004
Manually curated
Association Review

In brief

The association between TIMM8A (Translocase Of Inner Mitochondrial Membrane 8A) and Leukoencephalopathy, Progressive, With Ovarian Failure is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 35
Compounds 0
Trials 0
Publications 0
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

1 source

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

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03
TIMM8A

The gene

1 source summary

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

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04
Leukoencephalopathy, Progressive, With Ovarian Failure

The disorder

8 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

23 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Provenance

References & sources

5 references

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

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