Genopathy
Gene-Disorder Association · Article
Gene
GNB2
G Protein Subunit Beta 2
Disorder
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
First reported 2020
Supporting publications 3
Key publication · gene–disorder Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.European journal of medical genetics · 2020
Key publication · disorder Trisomy 9 mosaicism with multiple congenital anomalies.Journal of medical genetics · 1973
Manually curated
Association Review

In brief

The association between GNB2 (G Protein Subunit Beta 2) and Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 3
Clinical variants 8
Symptoms 190
Compounds 0
Trials 0
Publications 3
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
GNB2

The gene

2 source summaries

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

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04
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies

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

151 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

8 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

3 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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