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  3. FIBP
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Overgrowth

Gene: FIBP

Amber List (moderate evidence)
FIBP (FGF1 intracellular binding protein)
EnsemblGeneIds (GRCh38): ENSG00000172500
EnsemblGeneIds (GRCh37): ENSG00000172500
OMIM: 608296, Gene2Phenotype
FIBP is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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.
Created: 3 Feb 2020, 2:30 a.m. | Last Modified: 3 Feb 2020, 2:30 a.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thauvin-Robinet-Faivre syndrome, MIM#617107

Publications

Created: 3 Feb 2020, 2:30 a.m.
Last Modified: 3 Feb 2020, 2:30 a.m.
Panel version: 0.11

Details

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

History Filter Activity

3 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Feb 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Feb 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FIBP were set to

3 Feb 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FIBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

3 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FIBP was added gene: FIBP was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FIBP was set to Unknown