Genopathy
Gene-Disorder Association · Article
Gene
TRAPPC4
Trafficking Protein Particle Complex Subunit 4
Disorder
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
First reported 2020
Supporting publications 4
Key publication · gene–disorder Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.Brain : a journal of neurology · 2020
Key publication · disorder Cutis verticis gyrata-mental deficiency syndrome: report of a case with unusual neuroradiological findings.Clinical dysmorphology · 1998
Manually curated
Association Review

In brief

The association between TRAPPC4 (Trafficking Protein Particle Complex Subunit 4) and Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 3
Clinical variants 10
Symptoms 43
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

3 sources

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

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03
TRAPPC4

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy

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

12 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

10 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

9 references

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

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