SRCAP

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, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• IUGR and IGF abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Monogenic short stature

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Osteogenesis imperfecta

Disease associations (Open Targets)

• Floating-Harbor syndrome

  0.80

• hereditary disease

  0.54

• neurodevelopmental disorder

  0.51

• neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities

  0.46

• neurodegenerative disease

  0.37

• complex neurodevelopmental disorder

  0.37

• Neurodevelopmental delay

  0.36

• epilepsy

  0.27

• Moderate intellectual disability

  0.26

• Rare genetic intellectual disability

  0.26

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

Protein function (UniProt)