Genopathy
Gene-Disorder Association · Article
Gene
KBTBD13
Kelch Repeat And BTB Domain Containing 13
Disorder
Actin-Accumulation Myopathy
First reported 1990
Key publication · disorder Immunoreactivity of antibodies raised against synthetic peptide fragments predicted from mid portions of dystrophin cDNA.Journal of the neurological sciences · 1990
Manually curated
Association Review

In brief

The association between KBTBD13 (Kelch Repeat And BTB Domain Containing 13) and Actin-Accumulation Myopathy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 1
Symptoms 3
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
KBTBD13

The gene

1 source summary

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

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04
Actin-Accumulation Myopathy

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

1 clinical variant

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

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06
Provenance

References & sources

4 references

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

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