Vasculitis

Gene: NCF4

Green List (high evidence)

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

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

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

History Filter Activity

16 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NCF4 were changed from to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960

16 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NCF4 were set to

16 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NCF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NCF4 was added gene: NCF4 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NCF4 was set to Unknown