RSPRY1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic short stature

  BIALLELIC, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

  0.76

• arthritic joint disease

  0.23

• hereditary disease

  0.19

• coronary atherosclerosis

  0.12

• herpes zoster

  0.11

• complication

  0.11

• nervous system disorder

  0.11

• spondyloepimetaphyseal dysplasia

  0.04

• spondyloepimetaphyseal dysplasia, matrilin-3 type

  0.01

• skeletal dysplasia

  0.01

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