PUS3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

  0.73

• Hydrolethalus

  0.50

• hydrolethalus syndrome

  0.45

• neurodegenerative disease

  0.37

• hereditary disease

  0.34

• Aplasia/Hypoplasia of the cerebellum

  0.33

• Polyhydramnios

  0.33

• Isolated anencephaly/exencephaly

  0.33

• Abnormal heart morphology

  0.33

• anencephaly

  0.33

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

Protein function (UniProt)