Vasculitis
Gene: NCF4

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypic overlap -- lupus like skin lesions.
Created: 16 Mar 2022, 6:16 a.m. | Last Modified: 16 Mar 2022, 6:16 a.m.

Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 16 Mar 2022, 6:16 a.m.
Last Modified: 16 Mar 2022, 6:16 a.m.
Panel version: 0.39

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 12 unrelated families reported with a milder, atypical form of CGD, and a supporting null mouse model.
Created: 15 Mar 2022, 10:01 a.m. | Last Modified: 15 Mar 2022, 10:01 a.m.

Panel Version: 0.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 15 Mar 2022, 10:01 a.m.
Last Modified: 15 Mar 2022, 10:01 a.m.
Panel version: 0.35

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
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