GFI1

growth factor independent 1 transcriptional repressor
OMIM: 600871, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green GFI1 in COVID-19 research


Level 2: Viral research
Version 1.80

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Congenital neutropaenia v1.22
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • Congenital neutropaenia v1.22
Phenotypes
  • Neutropenia, severe congenital 2
  • Congenital neutropenia
  • Severe congenital 2, autosomal dominant, 613107
  • Congenital defects of phagocyte number or function
  • Neutropenia, nonimmune chronic idiopathic, of adults, 607847
  • Severe congenital neutropenia
  • B/T lymphopenia
  • Chronic non-immune neutropenia of adults

Green GFI1 in Primary immunodeficiency


Version 2.480
Latest signed off version: v2.1 (24 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • Congenital neutropaenia v1.22
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

Green GFI1 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.88

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
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

Green GFI1 in Cytopenia - NOT Fanconi anaemia


Version 1.43
Latest signed off version: v1.29 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert review Green
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
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

Red GFI1 in Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.206
Latest signed off version: v2.5 (13 Feb 2020)

review Not set
Sources
  • Expert

Amber GFI1 in Severe Paediatric Disorders


Version 1.84

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Neutropenia, severe congenital 2, autosomal dominant, 613107
  • ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847