CHM

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Retinal disorders

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Glaucoma (developmental)

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Structural eye disease

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Fetal anomalies

Disease associations (Open Targets)

• choroideremia

  0.81

• Retinal dystrophy

  0.57

• retinitis pigmentosa

  0.56

• eye disorder

  0.37

• night blindness

  0.27

• Chorioretinal atrophy

  0.27

• Abnormality of the eye

  0.26

• hereditary disease

  0.20

• cancer

  0.10

• Progressive cone dystrophy

  0.09

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

Protein function (UniProt)