TUBA8

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Bleeding and platelet disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Cerebellar hypoplasia

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenia - NOT Fanconi anaemia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Malformations of cortical development

  BIALLELIC, autosomal or pseudoautosomal

• Cerebral vascular malformations

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Disease associations (Open Targets)

• macrothrombocytopenia, isolated, 2, autosomal dominant

  0.58

• viral infectious disease

  0.46

• polymicrogyria with optic nerve hypoplasia

  0.46

• atrial fibrillation

  0.46

• atrial flutter

  0.39

• autosomal dominant macrothrombocytopenia

  0.37

• cardiac arrhythmia

  0.36

• cardiomyopathy

  0.33

• chronic obstructive pulmonary disease

  0.29

• gram-negative bacterial infections

  0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)