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Newborns main panel

Gene: NCF1

Amber List (moderate evidence)
NCF1 (neutrophil cytosolic factor 1)
EnsemblGeneIds (GRCh38): ENSG00000158517
EnsemblGeneIds (GRCh37): ENSG00000158517
OMIM: 608512, Gene2Phenotype
NCF1 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Variants not reliably detected by current pipeline.
Created: 4 Nov 2024, 3:26 p.m. | Last Modified: 4 Nov 2024, 3:26 p.m.
Panel Version: 0.469
Created: 4 Nov 2024, 3:26 p.m.
Last Modified: 4 Nov 2024, 3:26 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update) - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Chronic granulomatous disease 1
OMIM
608512
Clinvar variants
Variants in NCF1
Penetrance
None
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 2

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to NCF1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Chronic granulomatous disease 1 for gene: NCF1

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Chronic granulomatous disease 1 for gene: NCF1

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Chronic granulomatous disease 1 for gene: NCF1

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to NCF1. Added phenotypes Chronic granulomatous disease 1 for gene: NCF1 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to NCF1. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Chronic granulomatous disease 1 for gene: NCF1

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: NCF1 was added gene: NCF1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal