Genopathy
Gene-Disorder Association · Article
Gene
ANKLE2
Ankyrin Repeat And LEM Domain Containing 2
Disorder
Microcephaly 16, Primary, Autosomal Recessive
First reported 2019
Supporting publications 4
Key publication · gene–disorder Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.Developmental cell · 2019
Key publication · disorder ASPM mutations identified in patients with primary microcephaly and seizures.Journal of medical genetics · 2005
Manually curated
Association Review

In brief

The association between ANKLE2 (Ankyrin Repeat And LEM Domain Containing 2) and Microcephaly 16, Primary, Autosomal Recessive 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 28
Symptoms 35
Compounds 0
Trials 0
Publications 4
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
ANKLE2

The gene

1 source summary

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

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04
Microcephaly 16, Primary, Autosomal Recessive

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

21 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

28 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

4 publications

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

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09
Provenance

References & sources

10 references

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

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