Vasculitis
Gene: NCF2

NCF2 (neutrophil cytosolic factor 2)
EnsemblGeneIds (GRCh38): ENSG00000116701
EnsemblGeneIds (GRCh37): ENSG00000116701
OMIM: 608515, Gene2Phenotype
NCF2 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Association with vasculitis is unclear, with some proposing variants in this gene are a risk factor.

Lupus-like skin lesions in carriers or adults with mild disease.
Created: 16 Mar 2022, 5:58 a.m. | Last Modified: 16 Mar 2022, 6:17 a.m.

Panel Version: 0.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chronic granulomatous disease 2, autosomal recessive, MIM# 233710

Publications

35167971

Created: 16 Mar 2022, 5:58 a.m.
Last Modified: 16 Mar 2022, 6:17 a.m.
Panel version: 0.39

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association with chronic granulomatous disease
Created: 15 Mar 2022, 9:58 a.m. | Last Modified: 15 Mar 2022, 9:58 a.m.

Panel Version: 0.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chronic granulomatous disease 2, autosomal recessive, MIM# 233710

Publications

Created: 15 Mar 2022, 9:58 a.m.
Last Modified: 15 Mar 2022, 9:58 a.m.
Panel version: 0.35

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Chronic granulomatous disease 2, autosomal recessive, MIM# 233710

OMIM

608515

Clinvar variants

Variants in NCF2

Penetrance

None

Publications

Panels with this gene