Delpire-McNeill syndrome: genes and variants
Delpire-McNeill syndrome is linked to 1 analyzed protein (SLC12A2). 2 DNA variants are known to cause it; 26 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 Delpire-McNeill syndrome
SLC12A2: Solute carrier family 12 member 2
It brings sodium, potassium, and chloride into cells and supports cell-volume control, epithelial secretion, and neuronal chloride homeostasis. Pathogenic variants can cause developmental disorders with hearing loss, growth abnormalities, or neurologic impairment.
2 disease-causing and 26 uncertain variants in SLC12A2 are linked to Delpire-McNeill syndrome.
Known disease-causing variants in Delpire-McNeill syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC12A2 A327V | 327 | Transmembrane | Disease-causing |
| SLC12A2 N376I | 376 | Transmembrane | Disease-causing |
Diseases related to Delpire-McNeill syndrome
- Hearing loss, also linked to SLC12A2
- Sensorineural hearing loss disorder, also linked to SLC12A2
Frequently asked questions
Which genes are linked to Delpire-McNeill syndrome?
In CATVariant, Delpire-McNeill syndrome is linked to 1 analyzed protein: SLC12A2 (Solute carrier family 12 member 2).
How many genetic variants are linked to Delpire-McNeill syndrome?
32 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 26 are of uncertain significance or have conflicting reports.
Which uncertain variants in Delpire-McNeill 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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