CCDC82

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Intellectual disability

  0.44

• neurodevelopmental disorder

  0.42

• syndromic intellectual disability

  0.34

• retinoschisis

  0.29

• retinal disorder

  0.29

• gastrointestinal disease

  0.29

• device complication

  0.24

• smoking initiation

  0.24

• musculoskeletal system disorder

  0.23

• cervical carcinoma

  0.21

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