Genopathy
Gene-Disorder Association · Article
Gene
HERC2
HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2
Disorder
Intellectual Developmental Disorder, Autosomal Recessive 38
First reported 2012
Supporting publications 2
Key publication · gene–disorder A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.Human mutation · 2012
Key publication · disorder L-Glutaric acidemia: investigation of a patient and his family.Pediatrics · 1979
Manually curated
Association Review

In brief

The association between HERC2 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2) and Intellectual Developmental Disorder, Autosomal Recessive 38 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 105
Symptoms 37
Compounds 0
Trials 0
Publications 2
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
HERC2

The gene

1 source summary

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

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04
Intellectual Developmental Disorder, Autosomal Recessive 38

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

22 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

105 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

2 publications

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

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09
Provenance

References & sources

11 references

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

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