TECPR2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• 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 neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

+2 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• hereditary spastic paraplegia 49

  0.78

• Autosomal recessive spastic paraplegia type 49

  0.71

• Spastic paraplegia

  0.68

• hereditary spastic paraplegia

  0.60

• hereditary disease

  0.42

• allergic rhinitis

  0.33

• autism

  0.33

• brain cancer

  0.25

• nervous system cancer

  0.25

• benign soft tissue neoplasm

  0.18

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

Protein function (UniProt)

Diseases associated with TECPR2

Curated MONDO disease pages that list TECPR2 among their top associated genes.

• hereditary spastic paraplegiaRare