Genopathy
Gene-Disorder Association · Article
Gene
LOC130064417
ATAC-STARR-Seq Lymphoblastoid Silent Region 10608
Disorder
Spondylocostal Dysostosis 1, Autosomal Recessive
First reported 2003
Supporting publications 3
Key publication · gene–disorder A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.Clinical genetics · 2003
Key publication · disorder Puncture diagnosis of vertebral anomalies.Archivum chirurgicum Neerlandicum · 1954
Manually curated
Association Review

In brief

The association between LOC130064417 (ATAC-STARR-Seq Lymphoblastoid Silent Region 10608) and Spondylocostal Dysostosis 1, Autosomal Recessive is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 22
Symptoms 24
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.

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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
LOC130064417

The gene

1 source summary

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

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04
Spondylocostal Dysostosis 1, Autosomal Recessive

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

17 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

22 clinical variants

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

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07
Literature

Reading

3 publications

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

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08
Provenance

References & sources

7 references

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

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