Inherited bleeding disorders

Gene: FYB1

Green List (high evidence)

FYB1 (FYN binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000082074
EnsemblGeneIds (GRCh37): ENSG00000082074
OMIM: 602731, Gene2Phenotype
FYB1 is in 3 panels

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Current level of evidence and expert review, High level of confidence as disease-causing gene. Proven in 3 unrelated pedigrees via cosegregation analysis or less than 3 or 1 large pedigree supported with functional studies (animal model). Ready for clinical reporting. Previous comments from expert reviewer, Very rare but convincing recessive for 2 high impact variants results in microthrombocytopenia. Two papers that are convincing (cosseg included, 2 independent families with same phenotype) PMID: 25516138,25876182 plus observed in the NIHRBR-RD BRIDGE cohort.
Created: 9 Aug 2017, 12:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Platelet disorder; Microthrombocytopenia 3; Thrombocytopenia 3

Publications

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

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added phenotypes from expert review
Created: 9 Aug 2017, 1:27 p.m.
Comment on list classification: Changed rating from Grey to Green based on expert list/supporting information from the NIHRBR-RD BRIDGE project
Created: 9 Aug 2017, 1:26 p.m.
Comment on publications: Two papers with 2 independent families with same phenotype (25516138, 25876182 cosegregation studies included.
In 3 members of a highly consanguineous kindred from northern Iraq with autosomal recessive thrombocytopenia, Hamamy et al. (2014) identified a homozygous frameshift mutation in the FYB gene.In 5 patients from a large consanguineous Arab family with THC3, Levin et al. (2015) identified a homozygous truncating mutation in the FYB gene
Created: 1 Jun 2017, 1:20 p.m.
Comment on list classification: changed from red to amber and added to watch list
Created: 1 Jun 2017, 1:10 p.m.
added new-gene-name tag. HGNC gene symbol is FYB1
Created: 1 Jun 2017, 1:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombocytopenia 3, 273900

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Thrombocytopenia 3, 273900
  • Platelet disorder
  • Microthrombocytopenia 3
OMIM
602731
Clinvar variants
Variants in FYB1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

FYB was changed to FYB1

5 Nov 2017, Gel status: 4

Removed Tag, Removed Tag

GEL ()

watchlist was removed from FYB. Panel: Inherited bleeding disorders new-gene-name was removed from FYB. Panel: Inherited bleeding disorders

9 Aug 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FYB were set to Thrombocytopenia 3, 273900;Platelet disorder; Microthrombocytopenia 3

9 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Jun 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Jun 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FYB were set to 25516138;25876182

1 Jun 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FYB were set to 25516138, 25876182

1 Jun 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

FYB was created by LouiseD

1 Jun 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

FYB was added to Inherited bleeding disorderspanel. Sources: Literature