NFIB

nuclear factor I B
OMIM: 600728, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red NFIB in Autism


Version 0.27

review Not set
Sources
  • Expert Review Red
  • SFARI

Green NFIB in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders
Version 1.103

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Macrocephaly, acquired, with impaired intellectual development, 618286

Amber NFIB in DDG2P


Version 2.21
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • DD-Gene2Phenotype
    Phenotypes
    • Intellectual disability with macrocephaly
    • Intellectual Disability and Macrocephaly

    Amber NFIB in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    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 Amber
    • Literature
    • Expert Review
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Macrocephaly
    • Macrocephaly, acquired, with impaired intellectual development, 618286
    Tags
    • Autism Spectrum Disorder
    • watchlist