SLC52A3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Amyotrophic lateral sclerosis/motor neuron disease

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Mitochondrial disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric motor neuronopathies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Brown-Vialetto-van Laere syndrome 1

  0.84

• riboflavin transporter deficiency

  0.71

• progressive bulbar palsy of childhood

  0.69

• hereditary disease

  0.52

• distal hereditary motor neuropathy

  0.46

• obstructive sleep apnea syndrome

  0.34

• auditory neuropathy

  0.33

• Madras motor neuron disease

  0.27

• Alzheimer disease

  0.26

• appendicitis

  0.24

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

Protein function (UniProt)