Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: NCF4EnsemblGeneIds (GRCh38): ENSG00000100365
EnsemblGeneIds (GRCh37): ENSG00000100365
OMIM: 601488, Gene2Phenotype
NCF4 is in 4 panels
3 reviews
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 Red
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960
- OMIM
- 601488
- Clinvar variants
- Variants in NCF4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NCF4 were set to 19692703 (case report);18580884;19262523;21900546;26289093; 21472827;21122541;19262523;17435756
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NCF4 were set to 19692703 (case report);18580884;19262523;21900546;26289093; 21472827;21122541;19262523;17435756
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)NCF4 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene NCF4 were set to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960
Created
Ellen McDonagh (Genomics England Curator)NCF4 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)NCF4 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list