Genopathy
Gene-Disorder Association · Article
Gene
CLN6
CLN6 Transmembrane ER Protein
Disorder
Neuronal Ceroid Lipofuscinosis
First reported 2002
Supporting publications 45
Key publication · gene–disorder The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.American journal of human genetics · 2002
Key publication · disorder Familial idiocy due to neuronal lipidosis (so-called late amaurotic idiocy).The American journal of psychiatry · 1950
Manually curated
Association Review

In brief

The association between CLN6 (CLN6 Transmembrane ER Protein) and Neuronal Ceroid Lipofuscinosis is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 647
Symptoms 4
Compounds 0
Trials 0
Publications 45
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
CLN6

The gene

1 source summary

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

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04
Neuronal Ceroid Lipofuscinosis

The disorder

10 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

647 clinical variants

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

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06
Literature

Reading

45 publications

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

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07
Provenance

References & sources

13 references

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

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