Hereditary cryohydrocytosis with reduced stomatin: genes and variants
Hereditary cryohydrocytosis with reduced stomatin is linked to 1 analyzed protein (SLC2A1). 5 DNA variants are known to cause it; 47 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Hereditary cryohydrocytosis with reduced stomatin
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.
5 disease-causing and 47 uncertain variants in SLC2A1 are linked to Hereditary cryohydrocytosis with reduced stomatin.
Known disease-causing variants in Hereditary cryohydrocytosis with reduced stomatin
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC2A1 R126C | 126 | Transmembrane | Disease-causing (★★) |
| SLC2A1 R126L | 126 | Transmembrane | Disease-causing (★★) |
| SLC2A1 R223W | 223 | Cytoplasmic | Disease-causing (★★) |
| SLC2A1 R458W | 458 | Cytoplasmic | Disease-causing (★★) |
| SLC2A1 R223P | 223 | Cytoplasmic | Disease-causing (★★) |
Same protein, different disease
- GLUT1 deficiency syndrome is also caused by SLC2A1 variants; they fall mostly in different places as the Hereditary cryohydrocytosis with reduced stomatin variants (53 disease-causing).
- Encephalopathy due to GLUT1 deficiency is also caused by SLC2A1 variants; they fall mostly in different places as the Hereditary cryohydrocytosis with reduced stomatin variants (32 disease-causing).
- Childhood onset GLUT1 deficiency syndrome 2 is also caused by SLC2A1 variants; they fall mostly in different places as the Hereditary cryohydrocytosis with reduced stomatin variants (18 disease-causing).
Diseases related to Hereditary cryohydrocytosis with reduced stomatin
- 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
- 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
Frequently asked questions
Which genes are linked to Hereditary cryohydrocytosis with reduced stomatin?
In CATVariant, Hereditary cryohydrocytosis with reduced stomatin is linked to 1 analyzed protein: SLC2A1 (Solute carrier family 2, facilitated glucose transporter member 1).
How many genetic variants are linked to Hereditary cryohydrocytosis with reduced stomatin?
59 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 47 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hereditary cryohydrocytosis with reduced stomatin 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center