HPDL

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities

  0.80

• spastic paraplegia 83, autosomal recessive

  0.76

• Inherited congenital spastic tetraplegia

  0.71

• hereditary disease

  0.53

• spastic ataxia

  0.43

• Spastic paraplegia

  0.42

• neurodegenerative disease

  0.37

• complex neurodevelopmental disorder

  0.37

• Leigh syndrome

  0.19

• cancer

  0.08

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

Protein function (UniProt)