Genopathy
Gene-Disorder Association · Article
Gene
TUBB1
Tubulin Beta 1 Class VI
Disorder
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
First reported 2014
Supporting publications 5
Key publication · gene–disorder TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia.European journal of haematology · 2014
Key publication · disorder Chronic isolated macrothrombocytopenia with autosomal dominant transmission: a morphological and qualitative platelet disorder.European journal of haematology · 1997
Manually curated
Association Review

In brief

The association between TUBB1 (Tubulin Beta 1 Class VI) and Macrothrombocytopenia, Isolated, 1, Autosomal Dominant is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 48
Symptoms 7
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

4 sources

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

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03
TUBB1

The gene

2 source summaries

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

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04
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant

The disorder

8 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

2 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

48 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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08
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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09
Literature

Reading

5 publications

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

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10
Provenance

References & sources

13 references

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

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