Genopathy
Gene-Disorder Association · Article
Gene
UNC80
Unc-80 Subunit Of NALCN Channel Complex
Disorder
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies
First reported 2016
Supporting publications 2
Key publication · disorder Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.American journal of human genetics · 2016
Association Review

In brief

The association between UNC80 (Unc-80 Subunit Of NALCN Channel Complex) and Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 57
Compounds 0
Trials 0
Publications 2
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
UNC80

The gene

1 source summary

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

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04
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies

The disorder

4 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

55 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

1 clinical variant

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

2 publications

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

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09
Provenance

References & sources

7 references

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

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