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STRs in panel
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COVID-19 research

Gene: NCF1

Green List (high evidence)

NCF1 (neutrophil cytosolic factor 1)
EnsemblGeneIds (GRCh38): ENSG00000158517
EnsemblGeneIds (GRCh37): ENSG00000158517
OMIM: 608512, Gene2Phenotype
NCF1 is in 5 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 6 variants identified in numerous unrelated cases.
Created: 2 May 2018, 11:14 a.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): NCF1 .PanelApp HGNC gene symbol check: NCF1 . IUIS Disease: Autosomal recessive CGD p47phox . IUIS Inheritance: AR .T cells: Normal, defective TCR mediated activation, .B cells: N/A, .IUIS Other affected cells: N + M. IUIS Associated features: Infections, autoinflammatory phenotype. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Defects of Respiratory Burst
Created: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: P47-phox (NCF1), PanelApp HGNC gene symbol check: NCF1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Chronic granulomatous disease (CGD) / Chronic granulomatous disease (CGD)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: NCF1, GRID_Gene_Symbol: NCF1, GRID_Transcript_ENS_Community submitted: ENST00000289473, GRID_Transcript_RefSeq: NM_000265.5, GRID_Transcript_ENS_used_on_Production: ENST00000289473
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Chronic granulomatous disease due to deficiency of NCF-1 233700
  • Chronic granulomatous disease (CGD)
  • Congenital defects of phagocyte number or function
  • Infections, autoinflammatory phenotype
OMIM
608512
Clinvar variants
Variants in NCF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NCF1 was added gene: NCF1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCF1 were set to 16972229; 10706888; 11133775 Phenotypes for gene: NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1 233700; Chronic granulomatous disease (CGD); Congenital defects of phagocyte number or function; Infections, autoinflammatory phenotype