Genopathy
Gene-Disorder Association · Article
Gene
NONO
Non-POU Domain Containing Octamer Binding
Disorder
Intellectual Developmental Disorder, X-Linked, Syndromic 34
First reported 2016
Supporting publications 5
Key publication · gene–disorder Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.European journal of human genetics : EJHG · 2016
Key publication · disorder Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.Nature neuroscience · 2015
Manually curated
Association Review

In brief

The association between NONO (Non-POU Domain Containing Octamer Binding) and Intellectual Developmental Disorder, X-Linked, Syndromic 34 is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 2
Clinical variants 26
Symptoms 94
Compounds 0
Trials 0
Publications 5
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

2 sources

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

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03
NONO

The gene

1 source summary

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

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04
Intellectual Developmental Disorder, X-Linked, Syndromic 34

The disorder

6 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

65 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

26 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

5 publications

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

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09
Provenance

References & sources

9 references

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

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