TRPS1

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, imprinted status unknown

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Osteogenesis imperfecta

Disease associations (Open Targets)

• Trichorhinophalangeal syndrome type 1 and 3

  0.81

• trichorhinophalangeal syndrome type I

  0.64

• hereditary disease

  0.54

• Langer-Giedion syndrome

  0.52

• Hypercholesterolemia

  0.50

• Abnormality of the skeletal system

  0.49

• type 2 diabetes mellitus

  0.48

• trichorhinophalangeal syndrome type I or III

  0.48

• diverticular disease

  0.46

• metabolic disease

  0.46

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

Protein function (UniProt)