DDG2P
Gene: FIBP

FIBP (FGF1 intracellular binding protein)
EnsemblGeneIds (GRCh38): ENSG00000172500
EnsemblGeneIds (GRCh37): ENSG00000172500
OMIM: 608296, Gene2Phenotype
FIBP is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome) is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 37876348;26660953;38102793;36919607;37218527;27183861).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome)

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome)

OMIM

608296

Clinvar variants

Variants in FIBP

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FIBP was added gene: FIBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FIBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIBP were set to 26660953; 38102793; 36919607; 27183861; 37218527; 37876348 Phenotypes for gene: FIBP were set to FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome)

DDG2P Gene: FIBP