Genomics England
GMS Panels
Panels
Genes and Entities

FIBP

FGF1 intracellular binding protein
OMIM: 608296
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome)
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thauvin-Robinet-Faivre syndrome, OMIM:617107, tall stature-intellectual disability-renal anomalies syndrome, MONDO:0014918