KIF11

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, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Primary lymphoedema

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Retinal disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Severe microcephaly

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

  0.82

• hereditary disease

  0.51

• Retinal dystrophy

  0.51

• neurodegenerative disease

  0.48

• type 2 diabetes mellitus

  0.43

• microcephaly

  0.41

• asthma

  0.37

• retinitis pigmentosa

  0.34

• Neurodevelopmental delay

  0.34

• microcephaly and chorioretinopathy 1

  0.33

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

Protein function (UniProt)