Gastrointestinal epithelial barrier disorders
Gene: NCF1

NCF1 (neutrophil cytosolic factor 1)
EnsemblGeneIds (GRCh38): ENSG00000158517
EnsemblGeneIds (GRCh37): ENSG00000158517
OMIM: 608512, Gene2Phenotype
NCF1 is in 4 panels

4 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: Previous curation and expert review indicate that variants in this gene are linked to gastrointestinal epithelial barrier phenotypes. Therefore, promoting this gene to green.
Created: 26 Jul 2018, 10:45 a.m.

Created: 26 Jul 2018, 10:45 a.m.

Panel version: 1.18

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.

Created: 12 Oct 2016, 9:09 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.135

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)

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

Created: 6 Sep 2016, 10:31 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.108

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN

Phenotypes

Inflammatory Bowel Disease (Very Early Onset)

OMIM

608512

Clinvar variants

Variants in NCF1

Penetrance

None

Panels with this gene