Genopathy
Gene-Disorder Association · Article
Gene
NHEJ1
Non-Homologous End Joining Factor 1
Disorder
Isolated Anophthalmia-Microphthalmia Syndrome
First reported 2010
Key publication · disorder Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.The British journal of ophthalmology · 2010
Association Review

In brief

The association between NHEJ1 (Non-Homologous End Joining Factor 1) and Isolated Anophthalmia-Microphthalmia Syndrome is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 1
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
NHEJ1

The gene

1 source summary

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

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04
Isolated Anophthalmia-Microphthalmia Syndrome

The disorder

3 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

1 clinical variant

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

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06
Provenance

References & sources

3 references

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

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