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IBMDx study

Gene: GFI1

Green List (high evidence)
GFI1 (growth factor independent 1 transcriptional repressor)
EnsemblGeneIds (GRCh38): ENSG00000162676
EnsemblGeneIds (GRCh37): ENSG00000162676
OMIM: 600871, Gene2Phenotype
GFI1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three unrelated families reported, and supportive functional data.
Created: 16 Jun 2021, 9:53 a.m. | Last Modified: 16 Jun 2021, 9:53 a.m.
Panel Version: 0.268

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107

Publications

Created: 16 Jun 2021, 9:53 a.m.
Last Modified: 16 Jun 2021, 9:53 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.268

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107
OMIM
600871
Clinvar variants
Variants in GFI1
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GFI1 was added gene: GFI1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: GFI1 was set to Unknown Phenotypes for gene: GFI1 were set to Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107