1. Genes and Genomic Entities
  2. NSF

NSF

N-ethylmaleimide sensitive factor, vesicle fusing ATPase
OMIM: 601633, Gene2Phenotype

2 panels

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


Level 2: Neurology
Version 9.57
Latest signed off version: v9.56 (12 Aug 2026)

Component of the following Super Panels:

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

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 96, OMIM:619340
    • developmental and epileptic encephalopathy 96, MONDO:0023659
    Tags
    • Q3_26_promote_green
    Red NSF in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 96, OMIM:619340