Complex cortical dysplasia with other brain malformations 7: genes and variants

Genes linked to Complex cortical dysplasia with other brain malformations 7

• TUBB2B: Tubulin beta-2B chain

  It contributes to neuronal microtubules needed for progenitor division, neuronal migration, axon development, and cortical organization. Heterozygous pathogenic variants cause tubulinopathy with polymicrogyria, cortical dysplasia, developmental delay, and sometimes epilepsy.

  23 disease-causing and 23 uncertain variants in TUBB2B are linked to Complex cortical dysplasia with other brain malformations 7.

• TUBB3: Tubulin beta-3 chain

  It forms neuronal microtubules required for axon growth, guidance, and intracellular transport. Heterozygous pathogenic variants can cause congenital fibrosis of the extraocular muscles type 3 and broader tubulinopathy phenotypes with brain and cranial-nerve abnormalities.

  23 disease-causing and 16 uncertain variants in TUBB3 are linked to Complex cortical dysplasia with other brain malformations 7.

Known disease-causing variants in Complex cortical dysplasia with other brain malformations 7

Which prediction tools work for Complex cortical dysplasia with other brain malformations 7

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• SIFT: 70 out of 100
• PolyPhen-2: 62 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• REVEL: 54 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• CATVariant: 52 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• CADD: 42 out of 100
• phyloP: 24 out of 100

Same protein, different disease

• Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement is also caused by TUBB3 variants; they fall partly in the same places as the Complex cortical dysplasia with other brain malformations 7 variants (6 disease-causing).

Diseases related to Complex cortical dysplasia with other brain malformations 7

• Ovarian cancer, also linked to TUBB2B and TUBB3
• Non-small cell lung carcinoma, also linked to TUBB2B and TUBB3
• Familial Mediterranean fever, also linked to TUBB2B and TUBB3
• Myocardial infarction, also linked to TUBB2B and TUBB3
• Prostate cancer, also linked to TUBB2B and TUBB3
• Cervical cancer, also linked to TUBB2B and TUBB3
• Tubulinopathy, also linked to TUBB2B
• Spastic ataxia, also linked to TUBB3
• Male infertility with azoospermia or oligozoospermia due to single gene mutation, also linked to TUBB3
• Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement, also linked to TUBB3
• TUBB3-related tubulinopathy, also linked to TUBB3

Frequently asked questions

Which genes are linked to Complex cortical dysplasia with other brain malformations 7?

In CATVariant, Complex cortical dysplasia with other brain malformations 7 is linked to 2 analyzed proteins: TUBB2B (Tubulin beta-2B chain) and TUBB3 (Tubulin beta-3 chain).

How many genetic variants are linked to Complex cortical dysplasia with other brain malformations 7?

99 variants: 46 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 39 are of uncertain significance or have conflicting reports.

Which uncertain variants in Complex cortical dysplasia with other brain malformations 7 look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

Which variant effect predictor works best for Complex cortical dysplasia with other brain malformations 7?

Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.70, based on 25 disease-causing and 9 harmless variants).

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.

Download every variant as CSV · Browse all diseases · Methods · About the Center