Genopathy
Gene-Disorder Association · Article
Gene
HECW2
HECT, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase 2
Disorder
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
First reported 2021
Supporting publications 8
Key publication · gene–disorder HECW2-related disorder in four Japanese patients.American journal of medical genetics. Part A · 2021
Key publication · disorder The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).Orphanet journal of rare diseases · 2008
Manually curated
Association Review

In brief

The association between HECW2 (HECT, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase 2) and Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 106
Symptoms 63
Compounds 0
Trials 0
Publications 8
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

4 sources

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

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03
HECW2

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language

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

39 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

106 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

8 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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