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 7 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

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

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.

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