Cytopenias and congenital anaemias
Gene: GFI1Comment when marking as ready: Marked as ready after the discussion with the clinical and curation teamCreated: 10 Mar 2017, 12:29 p.m.
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.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for GFI1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for GFI1 were set to 12778173; 19775295; 11810106; 12530980
This gene has been classified as Green List (High Evidence).
GFI1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
GFI1 was created by LouiseD