Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: NCF1EnsemblGeneIds (GRCh38): ENSG00000158517
EnsemblGeneIds (GRCh37): ENSG00000158517
OMIM: 608512, Gene2Phenotype
NCF1 is in 4 panels
5 reviews
Kimberly Gilmour (Great Ormond Street Hopsital)
agree with green geneCreated: 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)
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Sophie Hambleton (Newcastle University)
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)
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 BurstCreated: 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: ENST00000289473Created: 17 Apr 2018, 12:12 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- 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
- GOSH PID v.8.0
- Phenotypes
-
- Chronic granulomatous disease due to deficiency of NCF-1 233700
- Chronic granulomatous disease (CGD)
- Infections, autoinflammatory phenotype
- Congenital defects of phagocyte number or function
- OMIM
- 608512
- Clinvar variants
- Variants in NCF1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NCF1.
Added New Source
Louise Daugherty (Genomics England Curator)Source North West GLH was added to NCF1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to NCF1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Set penetrance
Louise Daugherty (Genomics England Curator)Phenotypes for gene NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1 233700, Chronic granulomatous disease (CGD), Infections, autoinflammatory phenotype, Congenital defects of phagocyte number or function
Added New Source
Louise Daugherty (Genomics England Curator)IUIS Classification February 2018 was added to NCF1. Panel: Primary immunodeficiency disorders
Added New Source
Louise Daugherty (Genomics England Curator)Victorian Clinical Genetics Services was added to NCF1. Panel: Primary immunodeficiency disorders
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: ncf1 has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for NCF1 were set to 11133775; 16972229; 10706888
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1 233700; Chronic granulomatous disease (CGD)
Added New Source
Louise Daugherty (Genomics England Curator)Expert Review Amber was added to NCF1. Panel: Primary immunodeficiency disorders
Added New Source, Set penetrance
Louise Daugherty (Genomics England Curator)ESID Registry 20171117 was added to NCF1. Panel: Primary immunodeficiency disorders Phenotypes for gene NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1, Chronic granulomatous disease (CGD)
Set penetrance
Louise Daugherty (Genomics England Curator)Phenotypes for gene NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1
Added New Source, Set penetrance
Louise Daugherty (Genomics England Curator)GRID V2.0 was added to NCF1. Panel: Primary immunodeficiency disorders Phenotypes for gene NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1
Clear Sources
Louise Daugherty (Genomics England Curator)NCF1 Source: GOSH PID 20171171 was removed from gene: NCF1
Added New Source
Louise Daugherty (Genomics England Curator)GOSH PID v.8.0 was added to NCF1. Panel: Primary immunodeficiency disorders
Added New Source
Louise Daugherty (Genomics England Curator)NCF1 was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171171
Created
Louise Daugherty (Genomics England Curator)NCF1 was created by Louise Daugherty