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  2. Early onset pancytopenia and red cell disorders
  3. GFI1
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Early onset pancytopenia 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

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Details

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

30 Sep 2015, Gel status: 3

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: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

GFI1 was added to Early onset pancytopenia and red cell disorderspanel. 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 Early onset pancytopenia and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 1

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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GFI1 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN

30 Sep 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GFI1 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list