Genopathy
Gene-Disorder Association · Article
Gene
GAREM2
GRB2 Associated Regulator Of MAPK1 Subtype 2
Disorder
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
First reported 1994
Supporting publications 41
Key publication · gene–disorder Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.Biochimica et biophysica acta · 1994
Key publication · disorder Jaundice in pregnancy--1976.The American journal of medicine · 1976
Manually curated
Association Review

In brief

The association between GAREM2 (GRB2 Associated Regulator Of MAPK1 Subtype 2) and Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 493
Symptoms 55
Compounds 0
Trials 0
Publications 41
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

1 source

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

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03
GAREM2

The gene

1 source summary

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

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04
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

The disorder

10 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

29 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

493 clinical variants

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

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07
Literature

Reading

41 publications

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

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08
Provenance

References & sources

15 references

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

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