Lissencephaly due to TUBA1A mutation: genes and variants

Genes linked to Lissencephaly due to TUBA1A mutation

• TUBA1A: Tubulin alpha-1A chain

  An alpha-tubulin chain that pairs with beta-tubulin to build microtubules. Microtubules provide tracks for transport and help shape dividing and migrating cells, making TUBA1A especially important for fetal brain development.

  62 disease-causing and 37 uncertain variants in TUBA1A are linked to Lissencephaly due to TUBA1A mutation.

Known disease-causing variants in Lissencephaly due to TUBA1A mutation

Showing 60 of 62.

Same protein, different disease

• Tubulinopathy is also caused by TUBA1A variants; they fall in the same places as the Lissencephaly due to TUBA1A mutation variants (101 disease-causing).
• Tubulinopathy-associated dysgyria is also caused by TUBA1A variants; they fall in the same places as the Lissencephaly due to TUBA1A mutation variants (6 disease-causing).
• TUBA1A-associated tubulinopathy is also caused by TUBA1A variants; they fall partly in the same places as the Lissencephaly due to TUBA1A mutation variants (3 disease-causing).

Diseases related to Lissencephaly due to TUBA1A mutation

• Tubulinopathy, also linked to TUBA1A
• Autosomal recessive limb-girdle muscular dystrophy, also linked to TUBA1A
• Gastric cancer, also linked to TUBA1A
• Non-small cell lung carcinoma, also linked to TUBA1A
• West syndrome, also linked to TUBA1A
• Multiple myeloma, also linked to TUBA1A
• Familial Mediterranean fever, also linked to TUBA1A
• Tubulinopathy-associated dysgyria, also linked to TUBA1A
• Prostate cancer, also linked to TUBA1A
• Cervical cancer, also linked to TUBA1A

Frequently asked questions

Which genes are linked to Lissencephaly due to TUBA1A mutation?

In CATVariant, Lissencephaly due to TUBA1A mutation is linked to 1 analyzed protein: TUBA1A (Tubulin alpha-1A chain).

How many genetic variants are linked to Lissencephaly due to TUBA1A mutation?

113 variants: 62 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 37 are of uncertain significance or have conflicting reports.

Which uncertain variants in Lissencephaly due to TUBA1A 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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