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  3. GFI1
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Anaemias and red cell disorders

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

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: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
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
Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

GFI1 was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services GFI1 was added to Anaemias and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen

22 Jul 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GFI1 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list

22 Jul 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GFI1 was created by ellenmcdonagh