NFIB

nuclear factor I B
OMIM: 600728, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red NFIB in Autism


Version 0.36

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 1.120

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Macrocephaly, acquired, with impaired intellectual development, 618286
Green NFIB in DDG2P


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • 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 6.1
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • 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
    • watchlist
    • Autism Spectrum Disorder