PRDM12

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Familial dysautonomia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Pain syndromes

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Paroxysmal central nervous system disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• congenital insensitivity to pain-hypohidrosis syndrome

  0.82

• autosomal recessive hereditary sensory and autonomic neuropathy

  0.55

• hereditary disease

  0.42

• hereditary sensory and autonomic neuropathy

  0.40

• Pain insensitivity

  0.37

• neurodegenerative disease

  0.27

• thrombophilia

  0.25

• Wolff-Parkinson-White syndrome

  0.05

• Arrhythmogenic right ventricular dysplasia

  0.05

• familial sick sinus syndrome

  0.05

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

Protein function (UniProt)