Genopathy
Gene-Disorder Association · Article
Gene
HACE1
HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1
Disorder
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
First reported 2015
Supporting publications 3
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-Severe Developmental Delay-Epilepsy Syndrome is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 40
Symptoms 40
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.

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
HACE1

The gene

1 source summary

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

Request access
04
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome

The disorder

4 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

40 clinical features

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

Request access
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.

Request access
07
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

Request access
08
Mechanism overlap

Shared mechanisms

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

Request access
09
Literature

Reading

3 publications

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

Request access
10
Provenance

References & sources

10 references

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

Request access