1. Genes and Genomic Entities
  2. NFIX

NFIX

nuclear factor I X
OMIM: 164005, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red NFIX in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.10
Latest signed off version: v5.0 (30 Apr 2025)

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Marshall-Smith syndrome, 602535
  • Sotos syndrome 2, 614753
Green NFIX in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.46
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Marshall-Smith syndrome 602535
    • Sotos syndrome 2 614753
    Green NFIX 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 1.121

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Marshall-Smith syndrome, 602535
    • Sotos syndrome 2, 614753
    Green NFIX in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.187
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MARSHALL-SMITH SYNDROME
    • SOTOS-LIKE SYNDROME
    Green NFIX in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.4
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Malan syndrome, OMIM:614753
    • Marshall-Smith syndrome, OMIM:602535
    • craniosynostosis, MONDO:0015469
    Green NFIX in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MARSHALL-SMITH SYNDROME 602535
    • SOTOS-LIKE SYNDROME 614753
    Green NFIX in Intellectual disability


    Level 2: Developmental disorders
    Version 9.376
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • SOTOS-LIKE SYNDROME