PRR12

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• neuroocular syndrome 1

  0.70

• neuroocular syndrome

  0.69

• Abnormality of vision

  0.56

• hereditary disease

  0.52

• autism

  0.46

• coloboma of iris

  0.46

• Motor delay

  0.46

• Delayed speech and language development

  0.46

• neurodegenerative disease

  0.46

• Intellectual disability

  0.46

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

Protein function (UniProt)