Genopathy
Gene-Disorder Association · Article
Gene
GATA2
GATA Binding Protein 2
Disorder
Lymphedema, Primary, With Myelodysplasia
First reported 2010
Supporting publications 131
Key publication · gene–disorder Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.American journal of medical genetics. Part A · 2010
Key publication · disorder Familial acute myeloid leukaemia with acquired Pelger-Huet anomaly and aneuploidy of C group.British medical journal · 1972
Manually curated
Association Review

In brief

The association between GATA2 (GATA Binding Protein 2) and Lymphedema, Primary, With Myelodysplasia is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 3
Clinical variants 1,450
Symptoms 23
Compounds 0
Trials 0
Publications 131
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
GATA2

The gene

2 source summaries

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

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04
Lymphedema, Primary, With Myelodysplasia

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

13 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

1,450 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

131 publications

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

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09
Provenance

References & sources

14 references

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

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