NPR2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic short stature

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Limb disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Familial Meniere Disease

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Osteogenesis imperfecta

Disease associations (Open Targets)

• Acromesomelic dysplasia, Maroteaux type

  0.83

• acromesomelic dysplasia 1, Maroteaux type

  0.82

• Tall stature - scoliosis - macrodactyly of the great toes

  0.76

• tall stature-scoliosis-macrodactyly of the great toes syndrome

  0.65

• short stature with nonspecific skeletal abnormalities

  0.63

• achondroplasia

  0.57

• congestive heart failure

  0.39

• familial focal epilepsy with variable foci

  0.38

• hereditary disease

  0.38

• bone disorder

  0.37

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

Protein function (UniProt)