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IBMDx study

Gene: FLI1

Green List (high evidence)
FLI1 (Fli-1 proto-oncogene, ETS transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000151702
EnsemblGeneIds (GRCh37): ENSG00000151702
OMIM: 193067, Gene2Phenotype
FLI1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Association with mono-allelic variants better established than bi-allelic variants.
Sources: Expert list
Created: 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

Created: 12 Aug 2020, 4:13 a.m.

Panel version: Imported from Bleeding and Platelet Disorders panel version 0.76

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
Phenotypes
  • Paris-Trousseau thrombocytopenia and Jacobson syndrome
OMIM
193067
Clinvar variants
Variants in FLI1
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FLI1 was added gene: FLI1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: FLI1 was set to Unknown Phenotypes for gene: FLI1 were set to Paris-Trousseau thrombocytopenia and Jacobson syndrome