1. Panels
  2. Congenital neutropaenia
  3. GFI1
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital neutropaenia

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

4 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
severe congenital neutropenia; chronic non-immune neutropenia of adults

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Association with the condition in OMIM, no association in G2P. Three expert reviewers consider it to be green and it's found in 2/4 sources
Created: 24 May 2016, 7:44 p.m.
Created: 24 May 2016, 7:44 p.m.

Panel version: 0.24

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Neutropenia, nonimmune chronic idiopathic, of adults 607847
  • Severe congenital 2, autosomal dominant, 613107
OMIM
600871
Clinvar variants
Variants in GFI1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 May 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene GFI1 were set to Neutropenia, nonimmune chronic idiopathic, of adults 607847; Severe congenital 2, autosomal dominant, 613107

24 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GFI1 was added to Congenital neutropaeniapanel. Source: Expert list

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GFI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GFI1 was added to Congenital neutropaeniapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GFI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GFI1 was added to Congenital neutropaeniapanel. Source: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

GFI1 was added to Congenital neutropaeniapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GFI1 was added to Congenital neutropaeniapanel. Sources: Illumina TruGenome Clinical Sequencing Services