Chronic granulomatous disease
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: 0.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

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

OMIM

601488

Clinvar variants

Variants in NCF4

Penetrance

None

Panels with this gene

History Filter Activity

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ncf4 has been classified as Green List (High Evidence).

1 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: NCF4 was added gene: NCF4 was added to Chronic granulomatous disease. Sources: Expert list Mode of inheritance for gene: NCF4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NCF4 were set to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960

Chronic granulomatous disease Gene: NCF4