Inherited bleeding disorders

Gene: FYB1

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

• 25876182
• 25516138

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

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