PPP1R3F

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

• neurodevelopmental disorder

  0.47

• neurodegenerative disease

  0.46

• Intellectual disability

  0.37

• epilepsy

  0.37

• colorectal carcinoma

  0.07

• asthma

  0.02

• childhood onset asthma

  0.02

• glioblastoma

  0.02

• Global developmental delay

  0.01

• neoplasm

  0.01

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

Protein function (UniProt)