NSF

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber NSF in Mendeliome


Version 1.2302

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 96, MIM# 619340
  • Seizures
  • EEG with burst suppression
  • Global developmental delay
  • Intellectual disability

Amber NSF in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 96, MIM# 619340
    • Seizures
    • EEG with burst suppression
    • Global developmental delay
    • Intellectual disability

    Amber NSF in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 96, MIM# 619340
    • Seizures
    • EEG with burst suppression
    • Global developmental delay
    • Intellectual disability