Intellectual disability
Gene: FIBP

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

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.

Panel Version: 8.97

FIBP variants have been associated with Thauvin-Robinet-Faivre syndrome in OMIM (OMIM:617107) and Gen2Phen rate this gene as having a moderate association with FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome). To date, three biallelic FIBP variants have been reported in three unrelated patients with Thauvin-Robinet-Faivre syndrome, the variant segregated with the condition in each of these families (PMID: 26660953; 27183861; 37876348). The variant reported in PMID: 37876348 & 37218527 may result in a frameshift and termination, if the wild type splice site is used. However, if the splice site in the duplicated sequence is used, the variant may not be pathogenic as the coding sequence would not altered, expression studies would reveal the mechanism.
Created: 28 Aug 2024, 2:11 p.m. | Last Modified: 28 Aug 2024, 2:36 p.m.

Panel Version: 7.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 28 Aug 2024, 2:11 p.m.
Last Modified: 28 Aug 2024, 2:36 p.m.
Panel version: 8.97

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating upgraded from Red to Amber based on review by Zornitza Stark.
Created: 16 Sep 2020, 3:38 p.m. | Last Modified: 16 Sep 2020, 3:38 p.m.

Panel Version: 3.310

Comment on publications: Two publications (PMID: 26660953; 27183861) describing four individuals from two unrelated families.
Created: 16 Sep 2020, 3:35 p.m. | Last Modified: 16 Sep 2020, 3:35 p.m.

Panel Version: 3.308

Created: 16 Sep 2020, 3:35 p.m.
Last Modified: 16 Sep 2020, 3:35 p.m.
Panel version: 3.308

Zornitza Stark (Australian Genomics)

I don't know

Two individuals from unrelated families reported in the literature with biallelic variants in this gene and an overgrowth syndrome, ID is part of the phenotype. Consider including as Amber.
Created: 22 Jun 2018, 10:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thauvin-Robinet-Faivre syndrome

Publications

26660953

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jun 2018, 10:59 a.m.

Panel version: 2.109

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Victorian Clinical Genetics Services

Phenotypes

Thauvin-Robinet-Faivre syndrome, OMIM:617107
tall stature-intellectual disability-renal anomalies syndrome, MONDO:0014918

OMIM

608296

Clinvar variants

Variants in FIBP

Penetrance

None

Publications

Panels with this gene