Gastrointestinal epithelial barrier disorders
Gene: NCF4EnsemblGeneIds (GRCh38): ENSG00000100365
EnsemblGeneIds (GRCh37): ENSG00000100365
OMIM: 601488, Gene2Phenotype
NCF4 is in 4 panels
4 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. 25/07/2018Created: 25 Jul 2018, 4:23 p.m.
Ellen McDonagh (Genomics England Curator)
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.
Neil shah (GOSH)
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. Two variants reported in one compound heterozygous case.Created: 5 Sep 2016, 8:33 a.m.
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)
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960
- OMIM
- 601488
- Clinvar variants
- Variants in NCF4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
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
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: ncf4 has been classified as Amber List (Moderate Evidence).
Set penetrance, Set publications
Olivia Niblock (Genomics England Curator)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']
Set mode of inheritance, Set penetrance, Set publications
Olivia Niblock (Genomics England Curator)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']
Added New Source, Set penetrance
Olivia Niblock (Genomics England Curator)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)
Added New Source
Olivia Niblock (Genomics England Curator)NCF4 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
Created
Olivia Niblock (Genomics England Curator)NCF4 was created by Olivia Niblock