Childhood onset GLUT1 deficiency syndrome 2: genes and variants

Genes linked to Childhood onset GLUT1 deficiency syndrome 2

• SLC2A1: Solute carrier family 2, facilitated glucose transporter member 1

  It provides basal glucose uptake in many tissues and is the principal route for glucose entry across the blood-brain barrier. Haploinsufficiency causes GLUT1 deficiency syndrome with epilepsy, developmental impairment, and movement disorders from inadequate brain glucose delivery.

  18 disease-causing and 24 uncertain variants in SLC2A1 are linked to Childhood onset GLUT1 deficiency syndrome 2.

Where Childhood onset GLUT1 deficiency syndrome 2 variants cluster

• SLC2A1 Cytoplasmic (positions 145–155): 3 of 18 disease-causing changes, 7.5× more than its size predicts.

Known disease-causing variants in Childhood onset GLUT1 deficiency syndrome 2

Same protein, different disease

• GLUT1 deficiency syndrome is also caused by SLC2A1 variants; they fall mostly in different places as the Childhood onset GLUT1 deficiency syndrome 2 variants (53 disease-causing).
• Encephalopathy due to GLUT1 deficiency is also caused by SLC2A1 variants; they fall partly in the same places as the Childhood onset GLUT1 deficiency syndrome 2 variants (32 disease-causing).
• Hereditary cryohydrocytosis with reduced stomatin is also caused by SLC2A1 variants; they fall mostly in different places as the Childhood onset GLUT1 deficiency syndrome 2 variants (5 disease-causing).
• Epilepsy, idiopathic generalized, susceptibility to, 13 is also caused by SLC2A1 variants; they fall mostly in different places as the Childhood onset GLUT1 deficiency syndrome 2 variants (4 disease-causing).

Diseases related to Childhood onset GLUT1 deficiency syndrome 2

• GLUT1 deficiency syndrome, also linked to SLC2A1
• Epilepsy, idiopathic generalized, susceptibility to, 13, also linked to SLC2A1
• Encephalopathy due to GLUT1 deficiency, also linked to SLC2A1
• Idiopathic generalized epilepsy, also linked to SLC2A1
• Self-limited epilepsy with centrotemporal spikes, also linked to SLC2A1
• Developmental disorder, also linked to SLC2A1
• Hereditary cryohydrocytosis with reduced stomatin, also linked to SLC2A1

Frequently asked questions

Which genes are linked to Childhood onset GLUT1 deficiency syndrome 2?

In CATVariant, Childhood onset GLUT1 deficiency syndrome 2 is linked to 1 analyzed protein: SLC2A1 (Solute carrier family 2, facilitated glucose transporter member 1).

How many genetic variants are linked to Childhood onset GLUT1 deficiency syndrome 2?

50 variants: 18 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 24 are of uncertain significance or have conflicting reports.

Which uncertain variants in Childhood onset GLUT1 deficiency syndrome 2 look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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