Genopathy
Gene-Disorder Association · Article
Gene
ZNF142
Zinc Finger Protein 142
Disorder
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
First reported 2022
Supporting publications 4
Key publication · gene–disorder ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review.European journal of medical genetics · 2022
Key publication · disorder FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.Clinical genetics · 2012
Manually curated
Association Review

In brief

The association between ZNF142 (Zinc Finger Protein 142) and Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 72
Symptoms 28
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
ZNF142

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements

The disorder

5 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

14 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

72 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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