Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: NCF1

Green List (high evidence)

NCF1 (neutrophil cytosolic factor 1)
EnsemblGeneIds (GRCh38): ENSG00000158517
EnsemblGeneIds (GRCh37): ENSG00000158517
OMIM: 608512, Gene2Phenotype
NCF1 is in 6 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green due to expert review and curated evidence.
Created: 12 Oct 2016, 9:09 a.m.

Neil shah (GOSH)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. At least seven variants reported.
Created: 6 Sep 2016, 10:31 a.m.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Chronic granulomatous disease due to deficiency of NCF-1 233700
OMIM
608512
Clinvar variants
Variants in NCF1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

12 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NCF1 were set to 16972229; 11133775

12 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Sep 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

NCF1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

6 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1 233700

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NCF1 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NCF1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list