EAST syndrome: genes and variants
EAST syndrome is linked to 1 analyzed protein (KCNJ10). 12 DNA variants are known to cause it; 159 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 EAST syndrome
KCNJ10: ATP-sensitive inward rectifier potassium channel 10
12 disease-causing and 159 uncertain variants in KCNJ10 are linked to EAST syndrome.
Where EAST syndrome variants cluster
- KCNJ10 Transmembrane (positions 62–88): 3 of 12 disease-causing changes, 3.5× more than its size predicts.
Known disease-causing variants in EAST syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KCNJ10 R65C | 65 | Transmembrane | Disease-causing (★★) |
| KCNJ10 R297C | 297 | Cytoplasmic | Disease-causing (★★) |
| KCNJ10 A167V | 167 | Cytoplasmic | Disease-causing (★★) |
| KCNJ10 R175Q | 175 | Cytoplasmic | Disease-causing (★) |
| KCNJ10 R175W | 175 | Cytoplasmic | Disease-causing (★) |
| KCNJ10 G77R | 77 | Transmembrane | Disease-causing (★) |
| KCNJ10 R134S | 134 | Extracellular | Disease-causing (★) |
| KCNJ10 T57I | 57 | Cytoplasmic | Disease-causing (★) |
| KCNJ10 P194H | 194 | Cytoplasmic | Disease-causing (★) |
| KCNJ10 C140R | 140 | Extracellular | Disease-causing |
| KCNJ10 T164I | 164 | Transmembrane | Disease-causing |
| KCNJ10 F75L | 75 | Transmembrane | Disease-causing |
Diseases related to EAST syndrome
- Autosomal recessive nonsyndromic hearing loss 4, also linked to KCNJ10
- Pendred syndrome, also linked to KCNJ10
- Bilateral sensorineural hearing impairment, also linked to KCNJ10
- Microcephaly, also linked to KCNJ10
Frequently asked questions
Which genes are linked to EAST syndrome?
In CATVariant, EAST syndrome is linked to 1 analyzed protein: KCNJ10 (ATP-sensitive inward rectifier potassium channel 10).
How many genetic variants are linked to EAST syndrome?
195 variants: 12 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 159 are of uncertain significance or have conflicting reports.
Which uncertain variants in EAST 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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