SCAPER

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• intellectual developmental disorder and retinitis pigmentosa; IDDRP

  0.73

• autosomal recessive non-syndromic intellectual disability

  0.46

• retinitis pigmentosa

  0.45

• Rod-cone dystrophy

  0.43

• Moderate intellectual disability

  0.43

• obstructive sleep apnea syndrome

  0.43

• diverticular disease

  0.42

• hereditary disease

  0.42

• Bardet-Biedl syndrome

  0.37

• exfoliation syndrome

  0.35

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

Protein function (UniProt)