Gastrointestinal epithelial barrier disorders
Gene: NCF4Comment 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. 25/07/2018Created: 25 Jul 2018, 4:23 p.m.
Comment on list classification: Only one case report at this time. Several positive and negative gene association studies in inflammatory bowel disease, crohn's disease, colitis patients.Created: 13 Oct 2016, 3:42 p.m.
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. Two variants reported in one compound heterozygous case.Created: 5 Sep 2016, 8:33 a.m.
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
Gene: ncf4 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene NCF4 were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960 Publications for gene NCF4 was set to ['19692703', '18580884', '19262523', '21900546', '26289093', '21472827', '21122541', '17435756']
Model of inheritance for gene NCF4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene NCF4 were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960 Publications for gene NCF4 was set to ['19692703 (case report)', '18580884', '19262523', '21900546', '26289093', '21472827', '21122541', '17435756']
UKGTN was added to NCF4. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene NCF4 were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset)
NCF4 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
NCF4 was created by Olivia Niblock