Genopathy
Gene-Disorder Association · Article
Gene
TGFB2
Transforming Growth Factor Beta 2
Disorder
Familial Thoracic Aortic Aneurysm And Aortic Dissection
First reported 2014
Supporting publications 27
Key publication · gene–disorder Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.Clinica chimica acta; international journal of clinical chemistry · 2014
Key publication · disorder [2 clinically diagnosed cases of idiopathic median necrosis of the aorta (Gsell-Erdheim disease)].Zeitschrift fur Kreislaufforschung · 1961
Manually curated
Association Review

In brief

The association between TGFB2 (Transforming Growth Factor Beta 2) and Familial Thoracic Aortic Aneurysm And Aortic Dissection is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 226
Symptoms 44
Compounds 0
Trials 0
Publications 27
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
TGFB2

The gene

1 source summary

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

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04
Familial Thoracic Aortic Aneurysm And Aortic Dissection

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

41 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

226 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

27 publications

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

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10
Provenance

References & sources

15 references

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

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