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Chronic granulomatous disease

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
  • Expert list
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

23 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).

23 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NCF1 were changed from Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700 to Chronic granulomatous disease 1, autosomal recessive, MIM# 233700

23 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NCF1 were set to

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ncf1 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: NCF1 was added gene: NCF1 was added to Chronic granulomatous disease. Sources: Expert list Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700