OTUD7A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• genetic developmental and epileptic encephalopathy

  0.48

• developmental and epileptic encephalopathy

  0.46

• neurodevelopmental disorder with hypotonia and seizures

  0.42

• Intellectual disability

  0.38

• neurodegenerative disease

  0.36

• neurodevelopmental disorder

  0.27

• benign neoplasm of eye

  0.24

• tooth disorder

  0.21

• Blindness

  0.20

• diabetes mellitus

  0.15

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

Protein function (UniProt)