Genopathy
Gene-Disorder Association · Article
Gene
NCAPH2
Non-SMC Condensin II Complex Subunit H2
Disorder
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
First reported 2004
Supporting publications 15
Key publication · gene–disorder Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.American journal of medical genetics. Part A · 2004
Key publication · disorder A regulatory system controlling the production of cytochrome aa3 in Neurospora crassa.Molecular & general genetics : MGG · 1978
Manually curated
Association Review

In brief

The association between NCAPH2 (Non-SMC Condensin II Complex Subunit H2) and Mitochondrial Complex Iv Deficiency, Nuclear Type 2 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 79
Symptoms 161
Compounds 0
Trials 0
Publications 15
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
NCAPH2

The gene

1 source summary

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

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04
Mitochondrial Complex Iv Deficiency, Nuclear Type 2

The disorder

16 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

141 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

79 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

15 publications

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

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08
Provenance

References & sources

13 references

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

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