Genopathy
Gene-Disorder Association · Article
Gene
HCN2
Hyperpolarization Activated Cyclic Nucleotide Gated Potassium And Sodium Channel 2
Disorder
Epilepsy, Idiopathic Generalized 17
First reported 2018
Supporting publications 4
Key publication · gene–disorder Gain-of-function HCN2 variants in genetic epilepsy.Human mutation · 2018
Key publication · disorder Genetic and family studies in Friedreich's ataxia.The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques · 1976
Manually curated
Association Review

In brief

The association between HCN2 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium And Sodium Channel 2) and Epilepsy, Idiopathic Generalized 17 is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, causative variation, and a susceptibility locus.

Sources 3
Clinical variants 28
Symptoms 14
Compounds 0
Trials 0
Publications 4
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
HCN2

The gene

2 source summaries

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

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04
Epilepsy, Idiopathic Generalized 17

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

4 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

28 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

4 publications

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

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09
Provenance

References & sources

10 references

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

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