RIPPLY2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• autosomal recessive spondylocostal dysostosis

  0.58

• Klippel-Feil syndrome 2, autosomal recessive

  0.27

• Scheuermann disease

  0.08

• Familial Scheuermann disease

  0.08

• spondyloepiphyseal dysplasia tarda, autosomal dominant

  0.07

• Prata-Liberal-Goncalves syndrome

  0.07

• spondylocostal dysostosis 2, autosomal recessive

  0.07

• spondylolisthesis

  0.07

• autosomal dominant spondylocostal dysostosis

  0.07

• osteomesopyknosis

  0.07

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

Protein function (UniProt)