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Cataract

Gene: NCF4

Red List (low evidence)
NCF4 (neutrophil cytosolic factor 4)
EnsemblGeneIds (GRCh38): ENSG00000100365
EnsemblGeneIds (GRCh37): ENSG00000100365
OMIM: 601488, Gene2Phenotype
NCF4 is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

No evidence cataract is a feature of the condition.
Created: 15 Apr 2020, 2:17 a.m. | Last Modified: 15 Apr 2020, 2:17 a.m.
Panel Version: 0.116

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960

Created: 15 Apr 2020, 2:17 a.m.
Last Modified: 15 Apr 2020, 2:17 a.m.
Panel version: 0.116

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
OMIM
601488
Clinvar variants
Variants in NCF4
Penetrance
None
Panels with this gene

History Filter Activity

15 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ncf4 has been classified as Red List (Low Evidence).

15 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ncf4 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: NCF4 was added gene: NCF4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NCF4 was set to Unknown