Genopathy
Gene-Disorder Association · Article
Gene
HACE1
HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1
Disorder
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
First reported 2022
Supporting publications 3
Key publication · gene–disorder Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia.Genes · 2022
Key publication · disorder Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.Nature genetics · 2015
Manually curated
Association Review

In brief

The association between HACE1 (HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1) and Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 2
Clinical variants 40
Symptoms 53
Compounds 0
Trials 0
Publications 3
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

2 sources

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

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03
HACE1

The gene

1 source summary

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

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04
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures

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

28 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

40 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

3 publications

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

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09
Provenance

References & sources

7 references

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

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