Bleeding and Platelet Disorders
Gene: LOXEnsemblGeneIds (GRCh38): ENSG00000113083
EnsemblGeneIds (GRCh37): ENSG00000113083
OMIM: 153455, Gene2Phenotype
LOX is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Gene-disease association with aortic aneurysm rated as strong by ClinGen.Created: 15 Aug 2020, 3:56 a.m. | Last Modified: 15 Aug 2020, 3:56 a.m.
Panel Version: 0.98
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aortic aneurysm, familial thoracic 10, MIM# 617168
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Aortic aneurysm, familial thoracic 10, MIM# 617168
- OMIM
- 153455
- Clinvar variants
- Variants in LOX
- 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: lox has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LOX were changed from to Aortic aneurysm, familial thoracic 10, MIM# 617168
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LOX were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: LOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LOX was added gene: LOX was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LOX was set to Unknown