Inherited bleeding disorders
Gene: GFI1BComment on mode of inheritance: changed MOI to reflect disorders associated to this geneCreated: 26 Jul 2017, 5:28 p.m.
Comment on publications: added publications to support association to phenotype(s)Created: 26 Jul 2017, 5:22 p.m.
Comment on phenotypes: supporting publication for Combined alpha-delta platelet storage pool deficiency (AR) PMID 28041820Created: 26 Jul 2017, 5:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Gray platelet-like syndrome (GPS)
Only a BPD if high impact near the Znfinger 5: also GOFCreated: 19 Dec 2016, 11:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Gray platelet-like syndrome (GPS)
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for GFI1B were set to Gray platelet-like syndrome (GPS); Bleeding disorder, platelet-type, 17 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); 187900; Combined alpha-delta platelet storage pool deficiency (BIALLELIC, autosomal or pseudoautosomal)
Mode of inheritance for GFI1B was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for GFI1B was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for GFI1B were set to 28041820; 24325358; 23927492
Publications for GFI1B were set to 28041820;24325358;23927492;
Phenotypes for GFI1B were set to Gray platelet-like syndrome (GPS);Bleeding disorder, platelet-type, 17 (AD);187900; Combined alpha-delta platelet storage pool deficiency (AR)
Revised 19 December 2016
GFI1B was added to Inherited bleeding disorderspanel. Source: Expert Review Green
GFI1B was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
GFI1B was created by ellenmcdonagh