Genopathy
Gene-Disorder Association · Article
Gene
AFG2A
AAA ATPase AFG2A
Disorder
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
First reported 2015
Supporting publications 18
Key publication · gene–disorder Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.American journal of human genetics · 2015
Key publication · disorder Cockayne's syndrome: case report.Journal of neurology, neurosurgery, and psychiatry · 1971
Manually curated
Association Review

In brief

The association between AFG2A (AAA ATPase AFG2A) and Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 732
Symptoms 88
Compounds 0
Trials 0
Publications 18
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

5 sources

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

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03
AFG2A

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities

The disorder

10 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

63 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

732 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

18 publications

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

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09
Provenance

References & sources

16 references

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

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