Phagocyte Defects

Gene: NCF1

Green List (high evidence)

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

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

History Filter Activity

26 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ncf1 has been classified as Green List (High Evidence).

26 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NCF1 were changed from to Chronic granulomatous disease 1, autosomal recessive, MIM# 233700

26 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NCF1 were set to

26 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NCF1 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: NCF1 was added gene: NCF1 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: NCF1 was set to Unknown