Genopathy
Gene-Disorder Association · Article
Gene
LOC111982869
Sharpr-MPRA Regulatory Region 2121
Disorder
Usher Syndrome, Type I
First reported 1959
Key publication · disorder Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study.Acta psychiatrica Scandinavica. Supplementum · 1959
Association Review

In brief

The association between LOC111982869 (Sharpr-MPRA Regulatory Region 2121) and Usher Syndrome, Type I is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 7
Symptoms 28
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
LOC111982869

The gene

1 source summary

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

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04
Usher Syndrome, Type I

The disorder

20 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

22 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

7 clinical variants

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

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07
Provenance

References & sources

7 references

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

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