Encephalopathy due to GLUT1 deficiency: genes and variants

Genes linked to Encephalopathy due to GLUT1 deficiency

• 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.

  32 disease-causing and 27 uncertain variants in SLC2A1 are linked to Encephalopathy due to GLUT1 deficiency.

Where Encephalopathy due to GLUT1 deficiency variants cluster

• SLC2A1 Cytoplasmic (positions 1–11): 3 of 32 disease-causing changes, 4.2× more than its size predicts.
• SLC2A1 Cytoplasmic (positions 145–155): 3 of 32 disease-causing changes, 4.2× more than its size predicts.
• SLC2A1 Transmembrane (positions 91–112): 3 of 32 disease-causing changes, 2.1× more than its size predicts.
• SLC2A1 Transmembrane (positions 121–144): 3 of 32 disease-causing changes, 1.9× more than its size predicts.

Known disease-causing variants in Encephalopathy due to GLUT1 deficiency

Same protein, different disease

• GLUT1 deficiency syndrome is also caused by SLC2A1 variants; they fall in the same places as the Encephalopathy due to GLUT1 deficiency variants (53 disease-causing).
• Childhood onset GLUT1 deficiency syndrome 2 is also caused by SLC2A1 variants; they fall in the same places as the Encephalopathy due to GLUT1 deficiency variants (18 disease-causing).
• Hereditary cryohydrocytosis with reduced stomatin is also caused by SLC2A1 variants; they fall mostly in different places as the Encephalopathy due to GLUT1 deficiency variants (5 disease-causing).
• Epilepsy, idiopathic generalized, susceptibility to, 13 is also caused by SLC2A1 variants; they fall mostly in different places as the Encephalopathy due to GLUT1 deficiency variants (4 disease-causing).

Diseases related to Encephalopathy due to GLUT1 deficiency

• GLUT1 deficiency syndrome, also linked to SLC2A1
• Epilepsy, idiopathic generalized, susceptibility to, 13, also linked to SLC2A1
• Idiopathic generalized epilepsy, also linked to SLC2A1
• Childhood onset GLUT1 deficiency syndrome 2, 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 Encephalopathy due to GLUT1 deficiency?

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

How many genetic variants are linked to Encephalopathy due to GLUT1 deficiency?

86 variants: 32 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 27 are of uncertain significance or have conflicting reports.

Which uncertain variants in Encephalopathy due to GLUT1 deficiency 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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