MAPRE2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Structural eye disease

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• multiple benign circumferential skin creases on limbs

  0.75

• skin creases, congenital symmetric circumferential, 2

  0.70

• neurodegenerative disease

  0.46

• Abnormality of the skeletal system

  0.37

• Brugada syndrome

  0.35

• developmental disability

  0.34

• ovarian dysfunction

  0.29

• adolescent idiopathic scoliosis

  0.27

• intestinal disorder

  0.25

• liver disorder

  0.24

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

Protein function (UniProt)