ZNF526

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Dentici-Novelli neurodevelopmental syndrome

  0.60

• Intellectual disability

  0.49

• microcephaly

  0.46

• epilepsy

  0.46

• Hypertonia

  0.46

• cataract

  0.46

• Dystonia

  0.46

• complex neurodevelopmental disorder

  0.37

• Macrocephaly

  0.33

• Hodgkins lymphoma

  0.23

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

Protein function (UniProt)