Bleeding and Platelet Disorders
Gene: FLI1EnsemblGeneIds (GRCh38): ENSG00000151702
EnsemblGeneIds (GRCh37): ENSG00000151702
OMIM: 193067, Gene2Phenotype
FLI1 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Association with mono-allelic variants better established than bi-allelic variants.
Sources: Expert listCreated: 12 Aug 2020, 4:13 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bleeding disorder, platelet-type, 21, MIM# 617443
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Bleeding disorder, platelet-type, 21, MIM# 617443
- OMIM
- 193067
- Clinvar variants
- Variants in FLI1
- 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: fli1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fli1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FLI1 was added gene: FLI1 was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: FLI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FLI1 were set to 24100448; 28255014; 26316623 Phenotypes for gene: FLI1 were set to Bleeding disorder, platelet-type, 21, MIM# 617443 Review for gene: FLI1 was set to GREEN