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  3. NCF2
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Gastrointestinal epithelial barrier disorders

Gene: NCF2

Amber List (moderate evidence)
NCF2 (neutrophil cytosolic factor 2)
EnsemblGeneIds (GRCh38): ENSG00000116701
EnsemblGeneIds (GRCh37): ENSG00000116701
OMIM: 608515, Gene2Phenotype
NCF2 is in 4 panels

3 reviews

Olivia Niblock (Genomics England Curator)

Comment when marking as ready: This gene is being marked as ready, having been reviewed internally by the clinical team, by the curation team and by the expert reviewer. 25/07/2018
Created: 25 Jul 2018, 4:22 p.m.
Created: 25 Jul 2018, 4:22 p.m.

Panel version: 0.35

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.122

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Numerous variants reported
Created: 5 Sep 2016, 8:05 a.m.
Created: 5 Sep 2016, 8:05 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.59

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Chronic granulomatous disease due to deficiency of NCF-2 233710
OMIM
608515
Clinvar variants
Variants in NCF2
Penetrance
None
Panels with this gene

History Filter Activity

25 Jul 2018, Gel status: 2

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: ncf2 has been classified as Amber List (Moderate Evidence).

17 Apr 2018, Gel status: 2

Set mode of inheritance, Set penetrance

Olivia Niblock (Genomics England Curator)

Model of inheritance for gene NCF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene NCF2 were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Chronic granulomatous disease due to deficiency of NCF-2 233710

17 Apr 2018, Gel status: 2

Added New Source, Set penetrance

Olivia Niblock (Genomics England Curator)

UKGTN was added to NCF2. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene NCF2 were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset)

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

NCF2 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

NCF2 was created by Olivia Niblock