Phagocyte Defects
Gene: NCF4

NCF4 (neutrophil cytosolic factor 4)
EnsemblGeneIds (GRCh38): ENSG00000100365
EnsemblGeneIds (GRCh37): ENSG00000100365
OMIM: 601488, Gene2Phenotype
NCF4 is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 12 unrelated families reported with a milder, atypical form of CGD, and a supporting null mouse model.
Created: 1 Jun 2020, 2:55 a.m. | Last Modified: 1 Jun 2020, 2:55 a.m.

Panel Version: 0.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960

Publications

Created: 1 Jun 2020, 2:55 a.m.
Last Modified: 1 Jun 2020, 2:55 a.m.
Panel version: Imported from Chronic granulomatous disease panel version 0.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960

OMIM

601488

Clinvar variants

Variants in NCF4

Penetrance

None

Publications

Panels with this gene