Cytopenias and congenital anaemias
Gene: GFI1

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

3 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as ready after the discussion with the clinical and curation team
Created: 10 Mar 2017, 12:29 p.m.

Created: 10 Mar 2017, 12:29 p.m.

Panel version: 0.532

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Amber to Green after clinical discussion: Although strictly neutropenias would need to be accompanied by red blood cell abnormalities to be included in the critera for this panel, other neutropenia disorders are included. Note that GFI1 is also Green on the 'Congenital neutropenia' panel.
Created: 9 Mar 2017, 2:29 p.m.

Comment on list classification: Updated rating from Green to Amber: 2 case of GFI1 variants causing congenital neutropenia (plus additional adult case and mouse model.).
Created: 9 Mar 2017, 11:57 a.m.

Neutropenia reported in mice lacking the transcriptional repressor Gfi1 (PMID:11810106 and PMID:22684987).
Created: 9 Mar 2017, 10:40 a.m.

1 congenital neutropenia cases reported in OMIM (PMID:12778173, Person et al., 2003), plus additional case from literature (PMID:19775295). PMID:12778173 (Person et al., 2003) also report a case of GFI1 variant in adult neutropenia (MIM:607847).
Created: 9 Mar 2017, 10:38 a.m.

Created: 9 Mar 2017, 10:40 a.m.

Panel version: 0.457

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Severe congenital neutropenia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Expert list
UKGTN

Phenotypes

Inherited Bone Marrow Failure Syndromes - Neutropenia
Severe congenital neutropenic
Neutropenia, Severe Congenital, 2 Autosomal Dominant
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, severe congenital 2, autosomal dominant, 613107

OMIM

600871

Clinvar variants

Variants in GFI1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

10 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

9 Mar 2017, Gel status: 4