Genomics England
GMS Panels
Panels
Genes and Entities

GFI1

growth factor independent 1 transcriptional repressor
OMIM: 600871
PanelMode of inheritanceDetails
2 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
613107 Neutropenia, severe congenital 2, Severe congenital neutropenic, Inherited Bone Marrow Failure Syndromes - Neutropenia, Neutropenia, Severe Congenital, 2 Autosomal Dominant, Neutropenia, Nonimmune Chronic Idiopathic, Of Adults, Neutropenia, severe congenital 2, autosomal dominant, 613107, 607847 ?Neutropenia, nonimmune chronic idiopathic, of adults
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.123
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neutropenia, nonimmune chronic idiopathic, of adults, 607847, Severe congenital 2, autosomal dominant, 613107, Neutropenia, severe congenital 2, Congenital neutropenia, Severe congenital neutropenia, Chronic non-immune neutropenia of adults, B/T lymphopenia, Congenital defects of phagocyte number or function