CYFIP2

cytoplasmic FMR1 interacting protein 2
OMIM: 606323, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CYFIP2 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.3
Signed off v.2.2 on 13 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 65, 618008

Green CYFIP2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.3
Signed off v.3.2 on 13 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 65, 618008
    • Epileptic encephalopathy, early infantile 65, 618008

    Green CYFIP2 in Severe Paediatric Disorders


    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 65, 618008