Genopathy
Gene-Disorder Association · Article
Gene
LOC126863158
BRD4-Independent Group 4 Enhancer GRCh37_chr22:41547383-41548582
Disorder
Chromosome 16p13.3 Deletion Syndrome, Proximal
First reported 1966
Key publication · disorder Brachydactyly, facial abnormalities, and mental retardation. Rubinstein-Taybi syndrome.American journal of diseases of children (1960) · 1966
Association Review

In brief

The association between LOC126863158 (BRD4-Independent Group 4 Enhancer GRCh37_chr22:41547383-41548582) and Chromosome 16p13.3 Deletion Syndrome, Proximal is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 83
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.

Request access
02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
LOC126863158

The gene

1 source summary

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

Request access
04
Chromosome 16p13.3 Deletion Syndrome, Proximal

The disorder

14 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

82 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
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.

Request access
07
Provenance

References & sources

6 references

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

Request access