Childhood apraxia of speech: genes and variants
Childhood apraxia of speech is linked to 1 analyzed protein (FOXP2). 2 DNA variants are known to cause it; 26 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Childhood apraxia of speech
FOXP2: Forkhead box protein P2
It controls gene networks required for development and plasticity of neural circuits involved in speech, language, and coordinated orofacial movements. Heterozygous pathogenic variants cause childhood apraxia of speech with variable language and motor abnormalities.
2 disease-causing and 26 uncertain variants in FOXP2 are linked to Childhood apraxia of speech.
Known disease-causing variants in Childhood apraxia of speech
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FOXP2 R553H | 553 | Fork-head | Disease-causing (★★) |
| FOXP2 G473E | 473 | Disease-causing (★) |
Uncertain variants in Childhood apraxia of speech that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| FOXP2 R553C | 553 | Fork-head | Conflicting reports (★) | +7: R553H at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.975 |
Frequently asked questions
Which genes are linked to Childhood apraxia of speech?
In CATVariant, Childhood apraxia of speech is linked to 1 analyzed protein: FOXP2 (Forkhead box protein P2).
How many genetic variants are linked to Childhood apraxia of speech?
47 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 Childhood apraxia of speech look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example FOXP2 R553C. These are leads for expert review, not diagnoses.
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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