Genopathy
Gene-Disorder Association · Article
Gene
NALCN
Sodium Leak Channel, Non-Selective
Disorder
Autism Spectrum Disorder
First reported 2019
Key publication · gene–disorder Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
Key publication · disorder The autistic attitude in medicine and science.Bulletin of the Menninger Clinic · 1950
Manually curated
Association Review

In brief

The association between NALCN (Sodium Leak Channel, Non-Selective) and Autism Spectrum Disorder is reported, with clinical genetic testing available.

Sources 1
Clinical variants 2
Symptoms 8
Compounds 0
Trials 0
Publications 0
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

1 source

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

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03
NALCN

The gene

1 source summary

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

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04
Autism Spectrum Disorder

The disorder

6 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

2 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Provenance

References & sources

5 references

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

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