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Cataract

Gene: NCF1

Red List (low evidence)
NCF1 (neutrophil cytosolic factor 1)
EnsemblGeneIds (GRCh38): ENSG00000158517
EnsemblGeneIds (GRCh37): ENSG00000158517
OMIM: 608512, Gene2Phenotype
NCF1 is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

No evidence that cataract is a feature of the condition. This is an immunodeficiency condition.
Created: 15 Apr 2020, 2:13 a.m. | Last Modified: 15 Apr 2020, 2:13 a.m.
Panel Version: 0.114

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700

Created: 15 Apr 2020, 2:13 a.m.
Last Modified: 15 Apr 2020, 2:13 a.m.
Panel version: 0.114

History Filter Activity

15 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ncf1 has been classified as Red List (Low Evidence).

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 Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NCF1 was set to Unknown