1. Genes and Genomic Entities
  2. NECAP1

NECAP1

NECAP endocytosis associated 1
OMIM: 611623, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber NECAP1 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.125
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Epileptic encephalopathy, early infantile, 21, 615833
    • Early onset epileptic encephalopathy (EOEE)
    Amber NECAP1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Epileptic encephalopathy, early infantile 21, 615833