Inherited bleeding disorders

Gene: GFI1B

Green List (high evidence)

GFI1B (growth factor independent 1B transcriptional repressor)
EnsemblGeneIds (GRCh38): ENSG00000165702
EnsemblGeneIds (GRCh37): ENSG00000165702
OMIM: 604383, Gene2Phenotype
GFI1B is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on mode of inheritance: changed MOI to reflect disorders associated to this gene
Created: 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 28041820
Created: 26 Jul 2017, 5:19 p.m.

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

Phenotypes
Gray platelet-like syndrome (GPS)

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Only a BPD if high impact near the Znfinger 5: also GOF
Created: 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • 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)
OMIM
604383
Clinvar variants
Variants in GFI1B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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)

26 Jul 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for GFI1B was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

26 Jul 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for GFI1B 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 GFI1B were set to 28041820; 24325358; 23927492

26 Jul 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GFI1B were set to 28041820;24325358;23927492;

26 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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)

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)

GFI1B was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GFI1B was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GFI1B was created by ellenmcdonagh