TIMM8A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset dystonia, chorea or related movement disorder

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Childhood onset dystonia, chorea or related movement disorder

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Likely inborn error of metabolism

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Mitochondrial disorders

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Monogenic hearing loss

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Possible mitochondrial disorder - nuclear genes

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Retinal disorders

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

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Disease associations (Open Targets)

• deafness dystonia syndrome

  0.77

• Mohr-Tranebjaerg syndrome

  0.76

• hearing loss disorder

  0.37

• eye disorder

  0.37

• hereditary disease

  0.30

• auditory neuropathy

  0.27

• breast carcinoma

  0.10

• breast cancer

  0.10

• osteoarthritis, knee

  0.09

• essential tremor

  0.08

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

Protein function (UniProt)