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Phagocyte Defects

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, 9:57 a.m. | Last Modified: 16 Jun 2021, 9:57 a.m.
Panel Version: 0.55

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 16 Jun 2021, 9:57 a.m.
Last Modified: 16 Jun 2021, 9:57 a.m.
Panel version: 0.55

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107
Tags
treatable
OMIM
600871
Clinvar variants
Variants in GFI1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Aug 2023, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: GFI1.

16 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gfi1 has been classified as Green List (High Evidence).

16 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GFI1 were changed from to Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107

16 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GFI1 were set to

16 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GFI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GFI1 was added gene: GFI1 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: GFI1 was set to Unknown