Genopathy
Gene-Disorder Association · Article
Gene
LOC126862685
BRD4-Independent Group 4 Enhancer GRCh37_chr18:6958646-6959845
Disorder
Poretti-Boltshauser Syndrome
First reported 2014
Key publication · disorder Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.American journal of human genetics · 2014
Association Review

In brief

The association between LOC126862685 (BRD4-Independent Group 4 Enhancer GRCh37_chr18:6958646-6959845) and Poretti-Boltshauser Syndrome is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 2
Symptoms 41
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
LOC126862685

The gene

1 source summary

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

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04
Poretti-Boltshauser Syndrome

The disorder

10 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

28 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

2 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

6 references

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

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