FIBP

FGF1 intracellular binding protein
OMIM: 608296, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber FIBP in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Thauvin-Robinet-Faivre syndrome, OMIM:617107
Green FIBP in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome)
    Green FIBP in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Thauvin-Robinet-Faivre syndrome, OMIM:617107
    • tall stature-intellectual disability-renal anomalies syndrome, MONDO:0014918