FBXO28

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• developmental and epileptic encephalopathy 100

  0.77

• neurodegenerative disease

  0.46

• undetermined early-onset epileptic encephalopathy

  0.37

• hereditary disease

  0.34

• Delayed puberty

  0.24

• response to stimulus

  0.24

• gastrointestinal disease

  0.24

• adverse effect

  0.24

• poisoning

  0.24

• bone Paget disease

  0.22

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

Protein function (UniProt)