Genopathy
Gene-Disorder Association · Article
Gene
SPTLC1
Serine Palmitoyltransferase Long Chain Base Subunit 1
Disorder
Amyotrophic Lateral Sclerosis 27, Juvenile
First reported 2013
Supporting publications 6
Key publication · disorder A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage.Genes & development · 2013
Manually curated
Association Review

In brief

The association between SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1) and Amyotrophic Lateral Sclerosis 27, Juvenile is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 13
Symptoms 41
Compounds 0
Trials 0
Publications 6
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
SPTLC1

The gene

1 source summary

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

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04
Amyotrophic Lateral Sclerosis 27, Juvenile

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

26 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

13 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

6 publications

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

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09
Provenance

References & sources

12 references

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

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