PTRH2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

Disease associations (Open Targets)

• neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1

  0.79

• neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset

  0.68

• intellectual disability, autosomal dominant 56

  0.27

• cerebellar ataxia

  0.26

• Global developmental delay

  0.26

• Hearing impairment

  0.26

• hereditary disease

  0.19

• diabetes mellitus

  0.13

• type 2 diabetes mellitus

  0.12

• neoplasm

  0.11

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

Protein function (UniProt)