NOG

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

• Limb disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Primary ovarian insufficiency

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Rare syndromic craniosynostosis or isolated multisuture synostosis

• VACTERL-like phenotypes

Disease associations (Open Targets)

• proximal symphalangism 1A

  0.78

• brachydactyly type B2

  0.77

• multiple synostoses syndrome 1

  0.75

• tarsal-carpal coalition syndrome

  0.75

• stapes ankylosis with broad thumbs and toes

  0.70

• multiple synostoses syndrome

  0.56

• proximal symphalangism

  0.56

• hereditary disease

  0.49

• NOG-related symphalangism spectrum disorder

  0.46

• Progressive visual loss

  0.32

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

Protein function (UniProt)