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Intellectual disability

Gene: FIBP

Amber List (moderate evidence)

FIBP (FGF1 intracellular binding protein)
EnsemblGeneIds (GRCh38): ENSG00000172500
EnsemblGeneIds (GRCh37): ENSG00000172500
OMIM: 608296, Gene2Phenotype
FIBP is in 1 panel

2 reviews

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

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

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

Details

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

History Filter Activity

16 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: fibp has been classified as Amber List (Moderate Evidence).

16 Sep 2020, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FIBP were changed from Thauvin-Robinet-Faivre syndrome to Thauvin-Robinet-Faivre syndrome, 617107

16 Sep 2020, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: FIBP were set to 26660953

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to FIBP.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

FIBP was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

FIBP was created by Zornitza Stark