Genopathy
Gene-Disorder Association · Article
Gene
LOC126861244
BRD4-Independent Group 4 Enhancer GRCh37_chr11:68549035-68550234
Disorder
Carnitine Palmitoyltransferase I Deficiency
First reported 2002
Supporting publications 5
Key publication · gene–disorder Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.Human genetics · 2002
Key publication · disorder [Clinical, morphological and biochemical studies on muscle carnitine deficiency (author's transl)].Klinische Wochenschrift · 1979
Manually curated
Association Review

In brief

The association between LOC126861244 (BRD4-Independent Group 4 Enhancer GRCh37_chr11:68549035-68550234) and Carnitine Palmitoyltransferase I Deficiency is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 58
Symptoms 55
Compounds 0
Trials 0
Publications 5
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
LOC126861244

The gene

1 source summary

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

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04
Carnitine Palmitoyltransferase I Deficiency

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

37 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

58 clinical variants

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

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07
Literature

Reading

5 publications

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

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08
Provenance

References & sources

12 references

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

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