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Intellectual disability

Gene: FIBP

Red List (low evidence)

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

1 review

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
Phenotypes
  • Thauvin-Robinet-Faivre syndrome
OMIM
608296
Clinvar variants
Variants in FIBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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