Bleeding and Platelet Disorders
Gene: GFI1BEnsemblGeneIds (GRCh38): ENSG00000165702
EnsemblGeneIds (GRCh37): ENSG00000165702
OMIM: 604383, Gene2Phenotype
GFI1B is in 4 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Three families with a heterozygous variant and one case with a homozygous variant, with supporting in vitro functional assays. A null mouse model contained erythroid and megakaryocytic precursors arrested in their development.
Sources: LiteratureCreated: 11 May 2020, 10:35 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bleeding disorder, platelet-type, 17 MIM#187900
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Bleeding disorder, platelet-type, 17 MIM#187900
- OMIM
- 604383
- Clinvar variants
- Variants in GFI1B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gfi1b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gfi1b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GFI1B was added gene: GFI1B was added to Bleeding Disorders. Sources: Literature Mode of inheritance for gene: GFI1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GFI1B were set to 24325358; 23927492; 28041820; 11825872 Phenotypes for gene: GFI1B were set to Bleeding disorder, platelet-type, 17 MIM#187900 Review for gene: GFI1B was set to GREEN