AFF2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

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

• Intellectual disability

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

• Fetal anomalies

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

Disease associations (Open Targets)

• FRAXE intellectual disability

  0.73

• hereditary disease

  0.50

• neurodegenerative disease

  0.50

• non-syndromic X-linked intellectual disability

  0.41

• X-linked non-syndromic intellectual disability

  0.37

• Intellectual disability

  0.35

• primary ovarian failure

  0.27

• Hirsutism

  0.12

• Primary microcephaly

  0.12

• myopia

  0.12

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

Protein function (UniProt)