Inflammatory bowel disease
Gene: NOX1EnsemblGeneIds (GRCh38): ENSG00000007952
EnsemblGeneIds (GRCh37): ENSG00000007952
OMIM: 300225, Gene2Phenotype
NOX1 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
The variant reported in PMID 32064493 is present in 6 hets in gnomad. Agree with Amber rating.Created: 4 Aug 2022, 8:29 a.m. | Last Modified: 4 Aug 2022, 8:29 a.m.
Panel Version: 0.82
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Inflammatory bowel disease, MONDO:0005265, NOX1-related
Publications
Peter McNaughton (Queensland Children's Hospital)
8 IBD patients with early onset of IBD with progressive and severe colonic disease, refractory to conventional therapy and functional studies suggesting variant-dependent loss of NOX1-mediated superoxide generation. However, high frequency of nonsynonymous mutations in NOX1 suggests that NOX1 is not a highly penetrant Mendelian disorder and that other genetic modifiers or environmental factors may contribute to disease pathogenesis
Sources: LiteratureCreated: 3 Aug 2022, 6:56 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Inflammatory bowel disease
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Inflammatory bowel disease, MONDO:0005265, NOX1-related
- OMIM
- 300225
- Clinvar variants
- Variants in NOX1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nox1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NOX1 were changed from Inflammatory bowel disease to Inflammatory bowel disease, MONDO:0005265, NOX1-related
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nox1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nox1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: NOX1 was added gene: NOX1 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: NOX1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NOX1 were set to PMID: 29091079; 32064493 Phenotypes for gene: NOX1 were set to Inflammatory bowel disease Review for gene: NOX1 was set to AMBER