TRIO

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, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Severe microcephaly

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• intellectual developmental disorder, autosomal dominant 63, with macrocephaly

  0.78

• micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome

  0.76

• hereditary disease

  0.55

• Intellectual disability

  0.52

• syndromic intellectual disability

  0.50

• neurodegenerative disease

  0.42

• hearing loss, autosomal recessive

  0.35

• Tip-toe gait

  0.34

• idiopathic pulmonary fibrosis

  0.31

• Hypercholesterolemia

  0.30

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

Protein function (UniProt)