Inherited bleeding disorders
Gene: FLI1

FLI1 (Fli-1 proto-oncogene, ETS transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000151702
EnsemblGeneIds (GRCh37): ENSG00000151702
OMIM: 193067, Gene2Phenotype
FLI1 is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added missing phenotypes and MOI.
AD: BDPLT21 (OMIM 617433) missense, (Storage Pool Deficiency + Bleeding) PMID: 24100448
AR : BDPLT21 (OMIM 617433) missense (Paris Trousseau like) PMID:26316623
Created: 26 Jul 2017, 5:11 p.m.

Comment on mode of inheritance: AD: BDPLT21 (OMIM 617433) missense, (Severe Platlet Disorder + Bleeding)
AR : BDPLT21 (OMIM 617433) missense (Paris Trousseau like)
Created: 26 Jul 2017, 4:58 p.m.

Comment on mode of inheritance: changed MOI to reflect BPD disorders associated
Created: 26 Jul 2017, 4:45 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Paris-Trousseau thrombocytopenia and Jacobson syndrome

Created: 19 Dec 2016, 11:31 a.m.

Panel version: 0.18

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Paris-Trousseau thrombocytopenia and Jacobson syndrome

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

Created: 19 Dec 2016, 11:18 a.m.

Panel version: 0.17

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
BRIDGE Study Tier 1 Gene

Phenotypes

Paris-Trousseau thrombocytopenia and Jacobson syndrome (BIALLELIC, autosomal or pseudoautosomal)
Bleeding disorder, platelet-type, 21
617443
BDPLT21
BDPLT21, Storage Pool Disorder and Bleeding (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
BDPLT21, Paris Trousseau like (BIALLELIC, autosomal or pseudoautosomal)
Bleeding disorder, platelet-type, 21

OMIM

193067

Clinvar variants

Variants in FLI1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

15 Aug 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for FLI1 were set to Paris-Trousseau thrombocytopenia and Jacobson syndrome (BIALLELIC, autosomal or pseudoautosomal); Bleeding disorder, platelet-type, 21; 617443; BDPLT21; BDPLT21, Storage Pool Disorder and Bleeding (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); BDPLT21, Paris Trousseau like (BIALLELIC, autosomal or pseudoautosomal);Bleeding disorder, platelet-type, 21

26 Jul 2017, Gel status: 4