Genopathy
Gene-Disorder Association · Article
Gene
BCS1L
BCS1 Ubiquinol-Cytochrome C Reductase Complex Chaperone
Disorder
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
First reported 2003
Supporting publications 18
Key publication · gene–disorder Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.American journal of medical genetics. Part A · 2003
Key publication · disorder Heme is necessary for the accumulation and assembly of cytochrome c oxidase subunits in Saccharomyces cerevisiae.The Journal of biological chemistry · 1978
Manually curated
Association Review

In brief

The association between BCS1L (BCS1 Ubiquinol-Cytochrome C Reductase Complex Chaperone) and Mitochondrial Complex Iii Deficiency, Nuclear Type 1 is well established and manually curated, with its 5 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 5
Clinical variants 129
Symptoms 89
Compounds 0
Trials 0
Publications 18
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

5 sources

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

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03
BCS1L

The gene

1 source summary

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

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04
Mitochondrial Complex Iii Deficiency, Nuclear Type 1

The disorder

14 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

64 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

129 clinical variants

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

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07
Genomic context

Regulatory context

1 regulatory element

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

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08
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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09
Literature

Reading

18 publications

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

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10
Provenance

References & sources

18 references

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

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