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  3. FIBP
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Fetal anomalies

Gene: FIBP

Amber List (moderate evidence)
FIBP (FGF1 intracellular binding protein)
EnsemblGeneIds (GRCh38): ENSG00000172500
EnsemblGeneIds (GRCh37): ENSG00000172500
OMIM: 608296, Gene2Phenotype
FIBP is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

Overgrowth syndrome - good evidence for gene-disease association and Green on Paediatric Disorders, but unclear whether macrosomia/macrocephaly present antenatally. Some mention of congenital anomalies e.g. cardiac but few cases.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thauvin-Robinet-Faivre syndrome, OMIM:617107

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Thauvin-Robinet-Faivre syndrome, OMIM:617107
OMIM
608296
Clinvar variants
Variants in FIBP
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Thauvin-Robinet-Faivre syndrome, OMIM:617107 for gene: FIBP

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: FIBP was added gene: FIBP was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: FIBP was set to BIALLELIC, autosomal or pseudoautosomal