Inherited bleeding disorders
Gene: FLI1Comment 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:26316623Created: 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 associatedCreated: 26 Jul 2017, 4:45 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Paris-Trousseau thrombocytopenia and Jacobson syndrome
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
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
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)
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)
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
Mode of inheritance for FLI1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for FLI1 were set to 24100448;26316623;28255014
Phenotypes for FLI1 were set to Paris-Trousseau thrombocytopenia and Jacobson syndrome; Bleeding disorder, platelet-type, 21; 617443; BDPLT21
Phenotypes for FLI1 were set to Paris-Trousseau thrombocytopenia and Jacobson syndrome;Bleeding disorder, platelet-type, 21;617443;
Mode of inheritance for FLI1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Revised 19 December 2016
FLI1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
FLI1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
FLI1 was created by ellenmcdonagh