NECAP1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• undetermined early-onset epileptic encephalopathy

  0.60

• genetic developmental and epileptic encephalopathy

  0.23

• hereditary disease

  0.19

• liver disorder

  0.14

• retinal degeneration

  0.03

• Epileptic encephalopathy

  0.01

• infantile epileptic encephalopathy

  0.01

• Retinal atrophy

  0.01

• Alzheimer disease

  0.01

• chronic kidney disease

  0.01

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

Protein function (UniProt)

Diseases associated with NECAP1

Curated MONDO disease pages that list NECAP1 among their top associated genes.

• undetermined early-onset epileptic encephalopathyRare