B4GALNT1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• hereditary spastic paraplegia 26

  0.79

• Autosomal recessive spastic paraplegia type 26

  0.76

• Spastic paraplegia

  0.55

• hereditary disease

  0.49

• complex hereditary spastic paraplegia

  0.37

• neurodegenerative disease

  0.33

• Spastic paraparesis

  0.27

• hepatocellular carcinoma

  0.11

• autism

  0.11

• neoplasm

  0.10

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

Protein function (UniProt)