Genopathy
Gene-Disorder Association · Article
Gene
ANAPC15
Anaphase Promoting Complex Subunit 15
Disorder
Deafness, Autosomal Recessive 63
First reported 2015
Supporting publications 1
Key publication · gene–disorder Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance.The Annals of otology, rhinology, and laryngology · 2015
Key publication · disorder Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.American journal of medical genetics. Part A · 2004
Manually curated
Association Review

In brief

The association between ANAPC15 (Anaphase Promoting Complex Subunit 15) and Deafness, Autosomal Recessive 63 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 53
Symptoms 7
Compounds 0
Trials 0
Publications 1
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
ANAPC15

The gene

1 source summary

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

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04
Deafness, Autosomal Recessive 63

The disorder

8 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

3 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

53 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

1 publication

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

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08
Provenance

References & sources

5 references

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

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