Genopathy
Gene-Disorder Association · Article
Gene
ACTB
Actin Beta
Disorder
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
First reported 2018
Supporting publications 5
Key publication · gene–disorder Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.Nature communications · 2018
Key publication · disorder A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.Proceedings of the National Academy of Sciences of the United States of America · 1999
Manually curated
Association Review

In brief

The association between ACTB (Actin Beta) and Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 7
Symptoms 60
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

5 sources

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

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03
ACTB

The gene

2 source summaries

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

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04
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay

The disorder

9 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

35 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

7 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

13 references

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

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