DDHD2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

+3 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Autosomal recessive spastic paraplegia type 54

  0.80

• hereditary spastic paraplegia 54

  0.75

• complex hereditary spastic paraplegia

  0.55

• hereditary disease

  0.47

• hereditary spastic paraplegia

  0.47

• hypothyroidism

  0.41

• Senior-Loken syndrome 6

  0.37

• Obesity

  0.34

• Global developmental delay

  0.34

• generalized epilepsy

  0.34

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

Protein function (UniProt)