Genopathy
Gene-Disorder Association · Article
Gene
TRAPPC6B
Trafficking Protein Particle Complex Subunit 6B
Disorder
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
First reported 2024
Supporting publications 5
Key publication · gene–disorder TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.Brain : a journal of neurology · 2024
Key publication · disorder Congenital microcephaly, infantile spasms, psychomotor retardation, and nephrotic syndrome in two sibs.European journal of pediatrics · 1987
Manually curated
Association Review

In brief

The association between TRAPPC6B (Trafficking Protein Particle Complex Subunit 6B) and Neurodevelopmental Disorder With Microcephaly, Epilepsy, 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 pathogenic and likely-pathogenic variants.

Sources 3
Clinical variants 10
Symptoms 40
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

3 sources

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

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03
TRAPPC6B

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy

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

25 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

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

10 references

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

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