Genopathy
Gene-Disorder Association · Article
Gene
HERC1
HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 1
Disorder
Developmental And Epileptic Encephalopathy 29
First reported 1987
Key publication · disorder Ontogeny of seizure incidence, latency, and severity in genetically epilepsy prone rats.Developmental psychobiology · 1987
Manually curated
Association Review

In brief

The association between HERC1 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 1) and Developmental And Epileptic Encephalopathy 29 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 44
Compounds 0
Trials 0
Publications 0
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
HERC1

The gene

1 source summary

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

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04
Developmental And Epileptic Encephalopathy 29

The disorder

7 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

20 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Provenance

References & sources

4 references

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

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