Genopathy
Gene-Disorder Association · Article
Gene
TNRC6B
Trinucleotide Repeat Containing Adaptor 6B
Disorder
Global Developmental Delay With Speech And Behavioral Abnormalities
First reported 2024
Supporting publications 4
Key publication · gene–disorder Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café-au-lait spots, and metabolic abnormality.Molecular genetics & genomic medicine · 2024
Key publication · disorder Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion.American journal of medical genetics · 1999
Manually curated
Association Review

In brief

The association between TNRC6B (Trinucleotide Repeat Containing Adaptor 6B) and Global Developmental Delay With Speech And Behavioral Abnormalities 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 72
Symptoms 42
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

2 sources

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

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03
TNRC6B

The gene

1 source summary

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

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04
Global Developmental Delay With Speech And Behavioral Abnormalities

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

24 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

8 references

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

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