Genopathy
Gene-Disorder Association · Article
Gene
LOC130057772
ATAC-STARR-Seq Lymphoblastoid Silent Region 6752
Disorder
Developmental And Epileptic Encephalopathy 48
First reported 1993
Key publication · disorder Prenatal etiologies of West syndrome.Epilepsia · 1993
Association Review

In brief

The association between LOC130057772 (ATAC-STARR-Seq Lymphoblastoid Silent Region 6752) and Developmental And Epileptic Encephalopathy 48 is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 3
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.

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
LOC130057772

The gene

1 source summary

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

Request access
04
Developmental And Epileptic Encephalopathy 48

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

24 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

3 clinical variants

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

Request access
07
Provenance

References & sources

4 references

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

Request access