Subcortical laminar heterotopia, X-linked: genes and variants
Subcortical laminar heterotopia, X-linked is linked to 1 analyzed protein (DCX). 4 DNA variants are known to cause it; 0 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 Subcortical laminar heterotopia, X-linked
DCX: Neuronal migration protein doublecortin
It stabilizes microtubules in migrating neurons and is required for orderly cortical layering during brain development. Loss-of-function variants cause X-linked lissencephaly in males and subcortical band heterotopia in many heterozygous females.
4 disease-causing and 0 uncertain variants in DCX are linked to Subcortical laminar heterotopia, X-linked.
Known disease-causing variants in Subcortical laminar heterotopia, X-linked
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DCX R59L | 59 | Doublecortin 1 | Disease-causing |
| DCX A71S | 71 | Doublecortin 1 | Disease-causing |
| DCX R89G | 89 | Doublecortin 1 | Disease-causing |
| DCX Y125H | 125 | Doublecortin 1 | Disease-causing |
Same protein, different disease
- Ectopic tissue is also caused by DCX variants; they fall mostly in different places as the Subcortical laminar heterotopia, X-linked variants (25 disease-causing).
- Lissencephaly type 1 due to doublecortin gene mutation is also caused by DCX variants; they fall mostly in different places as the Subcortical laminar heterotopia, X-linked variants (23 disease-causing).
Diseases related to Subcortical laminar heterotopia, X-linked
- Ectopic tissue, also linked to DCX
- Lissencephaly type 1 due to doublecortin gene mutation, also linked to DCX
Frequently asked questions
Which genes are linked to Subcortical laminar heterotopia, X-linked?
In CATVariant, Subcortical laminar heterotopia, X-linked is linked to 1 analyzed protein: DCX (Neuronal migration protein doublecortin).
How many genetic variants are linked to Subcortical laminar heterotopia, X-linked?
4 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Subcortical laminar heterotopia, X-linked 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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