Inherited bleeding disorders
Gene: GFI1B

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)

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

Panel version: 0.18

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

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

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