Lissencephaly type 1 due to doublecortin gene mutation: genes and variants
Lissencephaly type 1 due to doublecortin gene mutation is linked to 1 analyzed protein (DCX). 23 DNA variants are known to cause it; 13 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 Lissencephaly type 1 due to doublecortin gene mutation
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.
23 disease-causing and 13 uncertain variants in DCX are linked to Lissencephaly type 1 due to doublecortin gene mutation.
Where Lissencephaly type 1 due to doublecortin gene mutation variants cluster
- DCX Doublecortin 1 (positions 53–139): 12 of 23 disease-causing changes, 2.2× more than its size predicts.
- DCX Doublecortin 2 (positions 180–263): 8 of 23 disease-causing changes, 1.5× more than its size predicts.
Known disease-causing variants in Lissencephaly type 1 due to doublecortin gene mutation
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DCX D62N | 62 | Doublecortin 1 | Disease-causing (★★) |
| DCX V182F | 182 | Doublecortin 2 | Disease-causing (★★) |
| DCX R196C | 196 | Doublecortin 2 | Disease-causing (★★) |
| DCX R196H | 196 | Doublecortin 2 | Disease-causing (★★) |
| DCX P179H | 179 | Disease-causing (★★) | |
| DCX R178C | 178 | Disease-causing (★★) | |
| DCX R186L | 186 | Doublecortin 2 | Disease-causing (★★) |
| DCX R192W | 192 | Doublecortin 2 | Disease-causing (★★) |
| DCX R102G | 102 | Doublecortin 1 | Disease-causing (★) |
| DCX R102S | 102 | Doublecortin 1 | Disease-causing (★) |
| DCX R102H | 102 | Doublecortin 1 | Disease-causing (★) |
| DCX Y64N | 64 | Doublecortin 1 | Disease-causing (★) |
| DCX R76G | 76 | Doublecortin 1 | Disease-causing (★) |
| DCX R89Q | 89 | Doublecortin 1 | Disease-causing (★) |
| DCX T183I | 183 | Doublecortin 2 | Disease-causing (★) |
| DCX G100R | 100 | Doublecortin 1 | Disease-causing (★) |
| DCX V101G | 101 | Doublecortin 1 | Disease-causing (★) |
| DCX T222I | 222 | Doublecortin 2 | Disease-causing (★) |
| DCX P352S | 352 | Disease-causing (★) | |
| DCX R59L | 59 | Doublecortin 1 | Disease-causing |
| DCX A71S | 71 | Doublecortin 1 | Disease-causing |
| DCX Y125H | 125 | Doublecortin 1 | Disease-causing |
| DCX D263G | 263 | Doublecortin 2 | Disease-causing |
Same protein, different disease
- Ectopic tissue is also caused by DCX variants; they fall partly in the same places as the Lissencephaly type 1 due to doublecortin gene mutation variants (25 disease-causing).
Diseases related to Lissencephaly type 1 due to doublecortin gene mutation
- Ectopic tissue, also linked to DCX
Frequently asked questions
Which genes are linked to Lissencephaly type 1 due to doublecortin gene mutation?
In CATVariant, Lissencephaly type 1 due to doublecortin gene mutation is linked to 1 analyzed protein: DCX (Neuronal migration protein doublecortin).
How many genetic variants are linked to Lissencephaly type 1 due to doublecortin gene mutation?
58 variants: 23 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 13 are of uncertain significance or have conflicting reports.
Which uncertain variants in Lissencephaly type 1 due to doublecortin gene mutation 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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