Genopathy
Gene-Disorder Association · Article
Gene
SLC2A1
Solute Carrier Family 2 Member 1
Disorder
Glucose Transporter Type 1 Deficiency Syndrome
First reported 2002
Supporting publications 39
Key publication · gene–disorder Imaging the metabolic footprint of Glut1 deficiency on the brain.Annals of neurology · 2002
Key publication · disorder Higher transpeptidation activity and broad acceptor specificity of gamma-glutamyltransferases of tumors.Gan · 1976
Manually curated
Association Review

In brief

The association between SLC2A1 (Solute Carrier Family 2 Member 1) and Glucose Transporter Type 1 Deficiency Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 341
Symptoms 4
Compounds 0
Trials 0
Publications 39
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

2 sources

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

Request access
03
SLC2A1

The gene

2 source summaries

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

Request access
04
Glucose Transporter Type 1 Deficiency Syndrome

The disorder

4 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

341 clinical variants

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

Request access
06
Literature

Reading

39 publications

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

Request access
07
Provenance

References & sources

13 references

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

Request access