NAPB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodegenerative disease

  0.40

• neurodevelopmental disorder

  0.37

• abortion

  0.19

• hereditary disease

  0.19

• Spasticity - intellectual disability - X-linked epilepsy

  0.11

• prostate cancer

  0.11

• developmental and epileptic encephalopathy, 1

  0.11

• Familial prostate cancer

  0.11

• genetic developmental and epileptic encephalopathy

  0.09

• undetermined early-onset epileptic encephalopathy

  0.07

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

Protein function (UniProt)