Inherited bleeding disorders

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 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

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

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

Set Phenotypes

Louise Daugherty (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)

26 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FLI1 were set to Paris-Trousseau thrombocytopenia and Jacobson syndrome (AR); Bleeding disorder, platelet-type, 21; 617443; BDPLT21; BDPLT21, Storage Pool Disorder and Bleeding (AD); BDPLT21, Paris Trousseau like (AR)

26 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FLI1 were set to Paris-Trousseau thrombocytopenia and Jacobson syndrome (AR); Bleeding disorder, platelet-type, 21; 617443; BDPLT21; BDPLT21 (AD), Storage Pool Disorder and Bleeding); BDPLT21(AR), Paris Trousseau like

26 Jul 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for FLI1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

26 Jul 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FLI1 were set to 24100448;26316623;28255014

26 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FLI1 were set to Paris-Trousseau thrombocytopenia and Jacobson syndrome; Bleeding disorder, platelet-type, 21; 617443; BDPLT21

26 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FLI1 were set to Paris-Trousseau thrombocytopenia and Jacobson syndrome;Bleeding disorder, platelet-type, 21;617443;

26 Jul 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for FLI1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

FLI1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FLI1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FLI1 was created by ellenmcdonagh