Bleeding and Platelet Disorders
Gene: FYB1EnsemblGeneIds (GRCh38): ENSG00000082074
EnsemblGeneIds (GRCh37): ENSG00000082074
OMIM: 602731, Gene2Phenotype
FYB1 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two further cases through clinical testing (Prevention Genetics) with homozygous LoF variant.Created: 6 Nov 2023, 2:48 a.m. | Last Modified: 6 Nov 2023, 2:48 a.m.
Panel Version: 1.26
Two families reported.
Sources: Expert listCreated: 12 Aug 2020, 4:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thrombocytopenia 3, MIM# 273900
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Thrombocytopenia 3, MIM# 273900
- OMIM
- 602731
- Clinvar variants
- Variants in FYB1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fyb1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fyb1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fyb1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FYB1 was added gene: FYB1 was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: FYB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FYB1 were set to 25516138; 25876182 Phenotypes for gene: FYB1 were set to Thrombocytopenia 3, MIM# 273900 Review for gene: FYB1 was set to AMBER