Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: NCF4

Red List (low evidence)

NCF4 (neutrophil cytosolic factor 4)
EnsemblGeneIds (GRCh38): ENSG00000100365
EnsemblGeneIds (GRCh37): ENSG00000100365
OMIM: 601488, Gene2Phenotype
NCF4 is in 6 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)

Green List (high evidence)

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

14 Oct 2016, Gel status: 1

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.

13 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

13 Oct 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NCF4 were set to 19692703 (case report);18580884;19262523;21900546;26289093; 21472827;21122541;19262523;17435756

13 Oct 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NCF4 were set to 19692703 (case report);18580884;19262523;21900546;26289093; 21472827;21122541;19262523;17435756

13 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Sep 2016, Gel status: 4

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

5 Sep 2016, Gel status: 0

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

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NCF4 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NCF4 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list