Genopathy
Gene-Disorder Association · Article
Gene
TBC1D2B
TBC1 Domain Family Member 2B
Disorder
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
First reported 2020
Supporting publications 2
Key publication · gene–disorder Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.Human mutation · 2020
Key publication · disorder Zimmermann-Laband syndrome: further clinical delineation.Genetic counseling (Geneva, Switzerland) · 2005
Manually curated
Association Review

In brief

The association between TBC1D2B (TBC1 Domain Family Member 2B) and Neurodevelopmental Disorder With Seizures And Gingival Overgrowth 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 14
Symptoms 42
Compounds 0
Trials 0
Publications 2
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
TBC1D2B

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth

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

18 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

14 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

2 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

6 references

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

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