EN1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• ENDOVE syndrome, limb-brain type

  0.57

• Abnormality of the skeletal system

  0.45

• hair color

  0.44

• ENDOVE syndrome, limb-only type

  0.43

• seborrheic dermatitis

  0.40

• erythematosquamous dermatosis

  0.40

• neurodegenerative disease

  0.35

• osteoporosis

  0.30

• obesity disorder

  0.28

• spontaneous abortion

  0.27

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

Protein function (UniProt)