Genopathy
Gene-Disorder Association · Article
Gene
SPOUT1
SPOUT Domain Containing Methyltransferase 1
Disorder
Neurodevelopmental Disorder With Poor Growth, Seizures, And Brain Abnormalities
First reported 2025
Supporting publications 1
Key publication · disorder RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.Nature communications · 2025
Manually curated
Association Review

In brief

The association between SPOUT1 (SPOUT Domain Containing Methyltransferase 1) and Neurodevelopmental Disorder With Poor Growth, Seizures, And Brain Abnormalities is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 4
Symptoms 125
Compounds 0
Trials 0
Publications 1
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
SPOUT1

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Poor Growth, Seizures, And Brain Abnormalities

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

96 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

4 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

1 publication

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

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09
Provenance

References & sources

6 references

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

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