Genopathy
Gene-Disorder Association · Article
Gene
SLC52A1
Solute Carrier Family 52 Member 1
Disorder
Maternal Riboflavin Deficiency
First reported 2011
Supporting publications 2
Key publication · gene–disorder Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.Human mutation · 2011
Key publication · disorder Some effects on a maternal riboflavin deficiency on reproduction in the rat.Canadian journal of medical sciences · 1952
Manually curated
Association Review

In brief

The association between SLC52A1 (Solute Carrier Family 52 Member 1) and Maternal Riboflavin Deficiency is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 2
Symptoms 0
Compounds 0
Trials 0
Publications 2
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

3 sources

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

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03
SLC52A1

The gene

1 source summary

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

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04
Maternal Riboflavin Deficiency

The disorder

4 database identifiers

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

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05
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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06
Literature

Reading

2 publications

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

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07
Provenance

References & sources

7 references

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

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