FIBP

FGF1 intracellular binding protein
OMIM: 608296, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FIBP in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.161

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thauvin-Robinet-Faivre syndrome, MIM#617107

Green FIBP in Mendeliome


Version 1.4216

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thauvin-Robinet-Faivre syndrome, MIM#617107

Green FIBP in Overgrowth


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.20

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thauvin-Robinet-Faivre syndrome, MIM#617107

Green FIBP in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.638

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Thauvin-Robinet-Faivre syndrome, MIM#617107

Green FIBP in Fetal anomalies


Version 1.522

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Thauvin-Robinet-Faivre syndrome - MIM#617107