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Phagocyte Defects

Gene: NCF2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 24 Jul 2021, 7 a.m. | Last Modified: 24 Jul 2021, 7 a.m.
Panel Version: 0.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 24 Jul 2021, 7 a.m.
Last Modified: 24 Jul 2021, 7 a.m.
Panel version: Imported from Chronic granulomatous disease panel version 0.16

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 2, autosomal recessive, MIM# 233710
OMIM
608515
Clinvar variants
Variants in NCF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ncf2 has been classified as Green List (High Evidence).

28 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NCF2 were changed from to Chronic granulomatous disease 2, autosomal recessive, MIM# 233710

28 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NCF2 were set to

28 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NCF2 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: NCF2 was added gene: NCF2 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: NCF2 was set to Unknown