Genopathy
Gene-Disorder Association · Article
Gene
LOC129999056
ATAC-STARR-Seq Lymphoblastoid Active Region 26441
Disorder
Multiple Mitochondrial Dysfunctions Syndrome 6
First reported 2015
Key publication · disorder Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.Journal of inherited metabolic disease · 2015
Association Review

In brief

The association between LOC129999056 (ATAC-STARR-Seq Lymphoblastoid Active Region 26441) and Multiple Mitochondrial Dysfunctions Syndrome 6 is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 4
Symptoms 40
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
LOC129999056

The gene

1 source summary

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

Request access
04
Multiple Mitochondrial Dysfunctions Syndrome 6

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

23 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

4 clinical variants

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

Request access
07
Provenance

References & sources

5 references

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

Request access