Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria

Gene: GFI1

Red List (low evidence)

GFI1 (growth factor independent 1 transcriptional repressor)
EnsemblGeneIds (GRCh38): ENSG00000162676
EnsemblGeneIds (GRCh37): ENSG00000162676
OMIM: 600871, Gene2Phenotype
GFI1 is in 7 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Neutropenia
  • Severe congenital neutropenic
OMIM
600871
Clinvar variants
Variants in GFI1
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GFI1 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list

29 Oct 2015, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene GFI1 were set to Inherited Bone Marrow Failure Syndromes - Neutropenia

29 Oct 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

29 Oct 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GFI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

29 Oct 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

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GFI1 was created by ellenmcdonagh

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GFI1 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: UKGTN