SLC52A2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Amyotrophic lateral sclerosis/motor neuron disease

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  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

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• riboflavin transporter deficiency

  0.83

• hereditary disease

  0.52

• hereditary sensory and autonomic neuropathy

  0.46

• Brown-Vialetto-van Laere syndrome 1

  0.46

• Sensorineural hearing impairment

  0.44

• mitochondrial disease

  0.43

• auditory neuropathy

  0.40

• Leber hereditary optic neuropathy

  0.37

• hereditary optic atrophy

  0.37

• optic atrophy

  0.37

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

Protein function (UniProt)