Phagocyte Defects
Gene: NCF1

NCF1 (neutrophil cytosolic factor 1)
EnsemblGeneIds (GRCh38): ENSG00000158517
EnsemblGeneIds (GRCh37): ENSG00000158517
OMIM: 608512, Gene2Phenotype
NCF1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 23 Jul 2021, 3:36 a.m. | Last Modified: 23 Jul 2021, 3:36 a.m.

Panel Version: 0.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chronic granulomatous disease 1, autosomal recessive, MIM# 233700

Publications

Created: 23 Jul 2021, 3:36 a.m.
Last Modified: 23 Jul 2021, 3:36 a.m.
Panel version: Imported from Chronic granulomatous disease panel version 0.13

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Chronic granulomatous disease 1, autosomal recessive, MIM# 233700

OMIM

608512

Clinvar variants

Variants in NCF1

Penetrance

None

Publications

Panels with this gene