SLC5A7

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Congenital myaesthenic syndrome

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric motor neuronopathies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• Congenital myasthenic syndromes

  0.78

• Presynaptic congenital myasthenic syndromes

  0.72

• distal hereditary motor neuropathy type 7

  0.71

• hereditary motor and sensory neuropathy

  0.37

• presynaptic congenital myasthenic syndrome

  0.37

• muscular atrophy

  0.27

• Charcot-Marie-Tooth disease type 2

  0.27

• hereditary disease

  0.19

• distal hereditary motor neuropathy

  0.12

• prostate cancer

  0.11

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

Protein function (UniProt)