Christianson syndrome: genes and variants
Christianson syndrome is linked to 1 analyzed protein (SLC9A6). 2 DNA variants are known to cause it; 40 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 Christianson syndrome
SLC9A6: Sodium/hydrogen exchanger 6
It regulates endosomal pH and trafficking in neurons and other cells by exchanging luminal protons for cytosolic sodium or potassium. Loss-of-function variants cause Christianson syndrome, with severe developmental impairment, absent speech, epilepsy, ataxia, and acquired microcephaly.
2 disease-causing and 40 uncertain variants in SLC9A6 are linked to Christianson syndrome.
Known disease-causing variants in Christianson syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC9A6 G383D | 383 | Transmembrane | Disease-causing (★) |
| SLC9A6 G448R | 448 | Transmembrane | Disease-causing |
Frequently asked questions
Which genes are linked to Christianson syndrome?
In CATVariant, Christianson syndrome is linked to 1 analyzed protein: SLC9A6 (Sodium/hydrogen exchanger 6).
How many genetic variants are linked to Christianson syndrome?
84 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 40 are of uncertain significance or have conflicting reports.
Which uncertain variants in Christianson syndrome 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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