Chronic granulomatous disease
Gene: NCF2
NCF2 (neutrophil cytosolic factor 2)
EnsemblGeneIds (GRCh38): ENSG00000116701
EnsemblGeneIds (GRCh37): ENSG00000116701
OMIM: 608515, Gene2Phenotype
NCF2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000116701
EnsemblGeneIds (GRCh37): ENSG00000116701
OMIM: 608515, Gene2Phenotype
NCF2 is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Chronic granulomatous disease due to deficiency of NCF-2 MIM#233710
- OMIM
- 608515
- Clinvar variants
- Variants in NCF2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
24 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).
24 Jul 2021, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NCF2 were set to
1 Jun 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ncf2 has been classified as Green List (High Evidence).
1 Jun 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NCF2 was added gene: NCF2 was added to Chronic granulomatous disease. Sources: Expert list Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NCF2 were set to Chronic granulomatous disease due to deficiency of NCF-2 MIM#233710