ABHD12

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract

  0.82

• PHARC syndrome

  0.78

• Rare hereditary ataxia

  0.47

• neurodegeneration, childhood-onset, with cerebellar atrophy

  0.47

• Retinal dystrophy

  0.47

• hearing loss disorder

  0.47

• hereditary ataxia

  0.46

• optic atrophy

  0.40

• Leber hereditary optic neuropathy

  0.38

• retinitis pigmentosa

  0.37

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

Protein function (UniProt)