Genopathy
Gene-Disorder Association · Article
Gene
ATP1A2
ATPase Na+/K+ Transporting Subunit Alpha 2
Disorder
Polymicrogyria
First reported 1970
Key publication · disorder Syndrome of absent abdominal muscles: two cases with microcephaly, polymicrogyria, and cerebellar malformations.Journal of neurology, neurosurgery, and psychiatry · 1970
Association Review

In brief

The association between ATP1A2 (ATPase Na+/K+ Transporting Subunit Alpha 2) and Polymicrogyria is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 2
Symptoms 0
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
ATP1A2

The gene

2 source summaries

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

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04
Polymicrogyria

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
ClinVar and variant evidence

Genetic basis

2 clinical variants

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

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06
Provenance

References & sources

4 references

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

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